{{Rsnum
|rsid=387906392
|Chromosome=12
|position=51913180
|Orientation=plus
|geno1=(AGCCT;AGCCT)
|geno2=(AGCCT;GGGCC)
|geno3=(GGGCC;GGGCC)
|Gene=ACVRL1
|Gene_s=ACVRL1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=GAGCCT
|CHROM=12
|CLNACC=RCV000008731.1
|CLNALLE=1
|CLNDBN=Hereditary hemorrhagic telangiectasia type 2
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1351:C1838163:600376:774
|CLNHGVS=NC_000012.11:g.52306964_52306968delGGGCCinsAGCCT
|CLNSIG=5
|CLNSRC=NCBI; OMIM Allelic Variant
|CLNSRCID=267606632; 601284.0005
|Disease=Hereditary hemorrhagic telangiectasia type 2
|FwdALT=AGCCT
|FwdREF=GGGCC
|REF=GGGGCC
|RSPOS=52306963
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=MNV
|VP=0x050060000000000002110800
|WGT=0
|dbSNPBuildID=137
|rsid=387906392
|GENEINFO=ACVRL1:94
|GENE_ID=94
|GENE_NAME=ACVRL1
}}