Allele Registry

Canonical Allele Identifier: PA2825004994

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV001003758

RCV001060097

ClinVar Variation:

812855

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Arg484Leu	CA384905817 NM_000020.3:c.1451G>T