Allele Registry

Canonical Allele Identifier: PA2825460957

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000671932

RCV001576168

RCV002307586

ClinVar Variation:

555998

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Val350Met	CA8815133 NM_001079803.3:c.1048G>A