Allele Registry

Canonical Allele Identifier: PA2825462329

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000169400

RCV003488416

ClinVar Variation:

189013

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Asp645His	CA274256 NM_001079803.3:c.1933G>C