Allele Registry

Canonical Allele Identifier: PA2825462824

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000254988

RCV000283919

RCV000825562

RCV002745939

RCV003920023

RCV004021024

ClinVar Variation:

265160

1972115

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Trp746Cys	CA8815665 NM_001079803.3:c.2238G>C CA401324771 NM_001079803.3:c.2238G>T