Allele Registry

Canonical Allele Identifier: PA645430427

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000488621

ClinVar Variation:

426034

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Ala478Asp	CA384905673 NM_000020.3:c.1433C>A