Canonical Allele Identifier: PA658826293
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 557292
ClinVar RCV Id: RCV000673414

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Gly862Arg
CA401326273
NM_000152.5:c.2584G>A
CA401326275
NM_000152.5:c.2584G>C