Allele Registry

Canonical Allele Identifier: PA658801249

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000598383

RCV000631072

RCV001526979

ClinVar Variation:

498117

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Asn290Asp	CA8815078 NM_000152.5:c.868A>G