{{Rsnum
|rsid=386833675
|Chromosome=21
|Orientation=plus
|geno1=(-;-)
|geno2=(-;CTGTCCCCTCCGC)
|geno3=(CTGTCCCCTCCGC;CTGTCCCCTCCGC)
|Gene=AIRE
|position=44291182
|Gene_s=AIRE
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=21
|CLNACC=RCV000003472.1; RCV000003473.1; RCV000049635.1
|CLNALLE=1
|CLNDBN=AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I; Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia; Polyglandular autoimmune syndrome, type 1
|CLNDSDB=MedGen; MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=CN068638; C2749602; C0085859:240300:3453:11244009
|CLNHGVS=NC_000021.8:g.45711065_45711077delCTGTCCCCTCCGC
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=607358.0003
|Disease=AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME; Autoimmune polyglandular syndrome type 1; Polyglandular autoimmune syndrome
|FwdREF=CTGTCCCCTCCGC
|REF=CCTGTCCCCTCCGC
|RSPOS=45711064
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050068000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=386833675
|GENEINFO=AIRE:326
|GENE_ID=326
|GENE_NAME=AIRE
}}{{PMID Auto
|PMID=10677297
|Title=Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.
|OA=1
}}