Canonical Allele Identifier: PA658678536
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 456382
ClinVar RCV Id: RCV000548222

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Glu50Lys
CA401360339
NM_000152.5:c.148G>A