Allele Registry

Canonical Allele Identifier: PA2825462092

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000174449

RCV001242470

ClinVar Variation:

194154

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Ser601Leu	CA274982 NM_001079803.3:c.1802C>T