Allele Registry

Canonical Allele Identifier: PA658802189

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000410956

RCV000612594

RCV001782875

ClinVar Variation:

371305

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Met439Lys	CA8815258 NM_001079803.3:c.1316T>A