Allele Registry

Canonical Allele Identifier: PA2573176556

Gene: GAA HGNC NCBI

ClinVar RCV:

RCV001978962

ClinVar Variation:

1440838

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073272.1:p.Val230Leu	CA401362611 NM_001079804.3:c.688G>C CA401362614 NM_001079804.3:c.688G>T