Canonical Allele Identifier: PA2825065806
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1371720
ClinVar RCV Id: RCV001864623

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Glu500Lys
CA401367013
NM_000152.5:c.1498G>A