Canonical Allele Identifier: PA2573176888
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1508211
ClinVar RCV Id: RCV002009697

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Glu748Lys
CA401324776
NM_001079804.3:c.2242G>A