Allele Registry

Canonical Allele Identifier: PA645481852

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000295145

RCV000702676

RCV004017586

ClinVar Variation:

286469

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Thr614Met	CA8815496 NM_000152.5:c.1841C>T