{{Rsnum
|rsid=387906394
|Chromosome=12
|position=51916100
|Orientation=plus
|geno1=(-;-)
|geno2=(-;G)
|geno3=(G;G)
|Gene=ACVRL1
|Gene_s=ACVRL1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=CG
|CHROM=12
|CLNACC=RCV000008745.2
|CLNALLE=1
|CLNDBN=TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II
|CLNHGVS=NC_000012.11:g.52309884_52309885insG
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=601284.0014
|Disease=TELANGIECTASIA
|FwdALT=G
|REF=C
|RSPOS=52309884
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD
|VC=DIV
|VP=0x050060000000000002100200
|WGT=0
|dbSNPBuildID=137
|rsid=387906394
|GENEINFO=ACVRL1:94
|GENE_ID=94
|GENE_NAME=ACVRL1
}}