Allele Registry

Canonical Allele Identifier: PA915964590

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV000597568

RCV000631090

ClinVar Variation:

501777

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073272.1:p.Glu430Lys	CA8815251 NM_001079804.3:c.1288G>A