Allele Registry

Canonical Allele Identifier: PA2825462080

Gene: GAA HGNC NCBI

ClinVar Allele:

493217

ClinVar RCV:

RCV000597451

RCV001199859

ClinVar Variation:

501793

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Ser601Trp	CA294896338 NM_001079803.3:c.1802C>G