Allele Registry

Canonical Allele Identifier: PA2825461586

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000386415

RCV000673833

ClinVar Variation:

285589

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Ile468Phe	CA10605170 NM_001079803.3:c.1402A>T