Canonical Allele Identifier: PA915963649
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 656236
ClinVar RCV Id: RCV000812604 RCV001003754 RCV002381809
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070869.1:p.Cys344Arg
CA384901730
NM_001077401.2:c.1030T>C