Allele Registry

Canonical Allele Identifier: PA915963679

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000467491

RCV000488746

RCV001576840

RCV002436455

ClinVar Variation:

411314

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070869.1:p.Arg374Gln	CA16614168 NM_001077401.2:c.1121G>A