{{Rsnum
|rsid=397514730
|Chromosome=X
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ALAS2
|position=55009302
|Gene_s=ALAS2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=X
|CLNACC=RCV000054488.2
|CLNALLE=1
|CLNDBN=Protoporphyria, erythropoietic, X-linked
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK121284:C2677889:300752:79278
|CLNHGVS=NC_000023.10:g.55035735G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=301300.0019
|Disease=Protoporphyria
|FwdALT=T
|FwdREF=C
|GENEINFO=ALAS2:212
|GENE_ID=212
|GENE_NAME=ALAS2
|REF=G
|RSPOS=55035735
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397514730
}}