Allele Registry

Canonical Allele Identifier: PA112912

Gene: GAA HGNC NCBI

ClinVar Allele:

358505

ClinVar RCV:

RCV000408964

RCV000521900

ClinVar Variation:

370130

HGVS (amino-acid)	Matching Registered Transcripts
NP_000143.2:p.Arg600His	CA8815482 NM_000152.5:c.1799G>A