Allele Registry

Canonical Allele Identifier: PA2825462167

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000295145

RCV000702676

RCV004017586

ClinVar Variation:

286469

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Thr614Met	CA8815496 NM_001079803.3:c.1841C>T