Canonical Allele Identifier: PA2825066336
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1508211
ClinVar RCV Id: RCV002009697

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Glu748Lys
CA401324776
NM_000152.5:c.2242G>A