Allele Registry

Canonical Allele Identifier: PA322928

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000198425

RCV001340965

RCV002363002

ClinVar Variation:

212799

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Val228Ile	CA322926 NM_000020.3:c.682G>A