Allele Registry

Canonical Allele Identifier: PA915964679

Gene: GAA HGNC NCBI

ClinVar Allele:

358502

ClinVar RCV:

RCV000410150

RCV000733496

ClinVar Variation:

371277

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073272.1:p.Pro522Ala	CA16041893 NM_001079804.3:c.1564C>G