Allele Registry

Canonical Allele Identifier: PA645429405

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000198425

RCV001340965

RCV002363002

ClinVar Variation:

212799

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070869.1:p.Val228Ile	CA322926 NM_001077401.2:c.682G>A