Allele Registry

Canonical Allele Identifier: PA658801264

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000597568

RCV000631090

ClinVar Variation:

501777

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Glu430Lys	CA8815251 NM_000152.5:c.1288G>A