Allele Registry

Canonical Allele Identifier: PA116595

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000004237

RCV000169465

RCV003137489

ClinVar Variation:

4022

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Glu521Lys	CA116593 NM_001079803.3:c.1561G>A