Allele Registry

Canonical Allele Identifier: PA2825462058

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000375289

RCV001248974

ClinVar Variation:

289361

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073271.1:p.Arg594Pro	CA8815476 NM_001079803.3:c.1781G>C