Allele Registry

Canonical Allele Identifier: PA645481598

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000400853

RCV000793157

ClinVar Variation:

286219

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Glu192Asp	CA8814933 NM_000152.5:c.576G>C CA401362143 NM_000152.5:c.576G>T