{{Rsnum
|rsid = 28936688
|Gene = ACVRL1
|geno1 = (A;A)
|geno2 = (A;G)
|geno3 = (G;G)
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|Chromosome=12
|position=51915483
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ACVRL1
}}{{omim
|desc=TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
|id=601284
|rsnum=28936688
|variant=0012
}}
{{ neighbor
| rsid = 28936401
| distance = 624
}}

{{ClinVar
|rsid=28936688
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=52309267
|CHROM=12
|dbSNPBuildID=132
|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.52309267G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=601284.0012
|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=RCV000008742.1; RCV000008743.2
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=NBK1351:C1838163:600376:774; C1832529
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}