Allele Registry

Canonical Allele Identifier: PA915963817

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000488694

RCV001241423

ClinVar Variation:

426036

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070869.1:p.Arg479Pro	CA384905687 NM_001077401.2:c.1436G>C