Allele Registry

Canonical Allele Identifier: PA2825460635

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000319725

RCV000535428

ClinVar Variation:

283894

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Arg281Trp	CA8815025 NM_001079803.3:c.841C>T