Allele Registry

Canonical Allele Identifier: PA645430324

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000488697

RCV000640435

RCV000756962

ClinVar Variation:

426022

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Gly319Arg	CA384901287 NM_000020.3:c.955G>C