Allele Registry

Canonical Allele Identifier: PA2573176900

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV001976117

ClinVar Variation:

1475276

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073272.1:p.Val780Leu	CA8815715 NM_001079804.3:c.2338G>T CA401324977 NM_001079804.3:c.2338G>C