Allele Registry

Canonical Allele Identifier: PA2825462940

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000078171

RCV000336875

RCV000675244

RCV002444547

ClinVar Variation:

92476

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Val780Ile	CA145769 NM_001079803.3:c.2338G>A