{{Rsnum
|rsid=397514692
|Chromosome=17
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=NLRP1
|position=5583728
|Gene_s=NLRP1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=17
|CLNACC=RCV000043505.2
|CLNALLE=1
|CLNDBN=Corneal intraepithelial dyskeratosis and ectodermal dysplasia
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=CN169519:615225:352662
|CLNHGVS=NC_000017.10:g.5487048A>G
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=606636.0002
|Disease=Corneal intraepithelial dyskeratosis and ectodermal dysplasia
|FwdALT=C
|FwdREF=T
|GENEINFO=NLRP1:22861
|GENE_ID=22861
|GENE_NAME=NLRP1
|REF=A
|RSPOS=5487048
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397514692
}}