{{Rsnum
|rsid=121909285
|Chromosome=12
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=ACVRL1
|position=51913187
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ACVRL1
}}{{omim
|id=601284
|rsnum=121909285
|variant=0004
}}{{ClinVar
|rsid=121909285
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=52306971
|CHROM=12
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=ACVRL1:94
|GENE_NAME=ACVRL1
|GENE_ID=94
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.52306971G>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=601284.0004
|CLNSIG=5
|CLNCUI=C1838163
|CLNDBN=Hereditary hemorrhagic telangiectasia type 2
|Disease=Hereditary hemorrhagic telangiectasia type 2
|CLNACC=RCV000008730.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1351:C1838163:600376:774
}}