{{Rsnum
|rsid=121909284
|Chromosome=12
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=ACVRL1
|position=51916219
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ACVRL1
}}{{omim
|id=601284
|rsnum=121909284
|variant=0001
}}{{ClinVar
|rsid=121909284
|Reversed=0
|FwdREF=G
|FwdALT=A,C
|REF=G
|ALT=A,C
|RSPOS=52310003
|CHROM=12
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=ACVRL1:94
|GENE_NAME=ACVRL1
|GENE_ID=94
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000012.11:g.52310003G>A; NC_000012.11:g.52310003G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=601284.0001; 601284.0015
|CLNSIG=5
|CLNCUI=C1838163
|CLNDBN=Hereditary hemorrhagic telangiectasia type 2; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II
|Disease=Hereditary hemorrhagic telangiectasia type 2; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia; TELANGIECTASIA
|CLNACC=RCV000008726.1; RCV000008727.1; RCV000008746.1
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=NBK1351:C1838163:600376:774; C1832529
}}