{{Rsnum
|rsid=387906393
|Chromosome=12
|position=51914573
|Orientation=plus
|geno1=(-;-)
|geno2=(-;GAC)
|geno3=(GAC;GAC)
|Gene=ACVRL1
|Gene_s=ACVRL1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=12
|CLNACC=RCV000008735.2; RCV000008736.1
|CLNALLE=1
|CLNDBN=Hereditary hemorrhagic telangiectasia type 2; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=NBK1351:C1838163:600376:774; C1832529
|CLNHGVS=NC_000012.11:g.52308357_52308359delGAC
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=601284.0008
|Disease=Hereditary hemorrhagic telangiectasia type 2; Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
|FwdREF=GAC
|REF=CGAC
|RSPOS=52308356
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050060000000000002110200
|WGT=0
|dbSNPBuildID=137
|rsid=387906393
|GENEINFO=ACVRL1:94
|GENE_ID=94
|GENE_NAME=ACVRL1
}}