Allele Registry

Canonical Allele Identifier: PA2825460167

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000400853

RCV000793157

ClinVar Variation:

286219

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Glu192Asp	CA8814933 NM_001079803.3:c.576G>C CA401362143 NM_001079803.3:c.576G>T