{{Rsnum
|rsid=121909288
|Chromosome=12
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ACVRL1
|position=51920831
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ACVRL1
}}{{omim
|id=601284
|rsnum=121909288
|variant=0010
}}{{ClinVar
|rsid=121909288
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=52314615
|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.52314615C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=601284.0010
|CLNSIG=5
|CLNCUI=C1838163
|CLNDBN=Hereditary hemorrhagic telangiectasia type 2; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
|Disease=Hereditary hemorrhagic telangiectasia type 2; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
|CLNACC=RCV000008739.1; RCV000008740.1
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=NBK1351:C1838163:600376:774; C1832529
}}