Allele Registry

Canonical Allele Identifier: PA645430432

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000488513

RCV000546029

RCV002395185

RCV003480651

ClinVar Variation:

426035

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Arg479Gln	CA384905684 NM_000020.3:c.1436G>A