Allele Registry

Canonical Allele Identifier: PA2573176888

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV002009697

ClinVar Variation:

1508211

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073272.1:p.Glu748Lys	CA401324776 NM_001079804.3:c.2242G>A