Allele Registry

Canonical Allele Identifier: PA113668

Gene: GAA HGNC NCBI

ClinVar Allele:

358502

ClinVar RCV:

RCV000410150

RCV000733496

ClinVar Variation:

371277

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Pro522Ala	CA16041893 NM_000152.5:c.1564C>G