{{Rsnum
|rsid=121909289
|Chromosome=12
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=ACVRL1
|position=51916183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ACVRL1
}}{{omim
|id=601284
|rsnum=121909289
|variant=0013
}}{{ClinVar
|rsid=121909289
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=52309967
|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
|CLNHGVS=NC_000012.11:g.52309967G>C
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000008744.1
|CLNDBN=Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
|CLNDSDB=MedGen
|CLNDSDBID=C1832529
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=601284.0013
|Disease=Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
}}