Canonical Allele Identifier: PA323136
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212796
ClinVar RCV Id: RCV000198604 RCV000414952 RCV000502469 RCV000488871 RCV000506673 RCV001003757 RCV002390510
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000011.2:p.Arg484Gln
CA323134
NM_000020.3:c.1451G>A