Allele Registry

Canonical Allele Identifier: PA113628

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000464818

RCV001782927

ClinVar Variation:

403712

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Pro361Leu	CA8815163 NM_000152.5:c.1082C>T