Allele Registry

Canonical Allele Identifier: PA915964556

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000535983

RCV001783029

ClinVar Variation:

456370

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073272.1:p.Pro397Leu	CA8815197 NM_001079804.3:c.1190C>T