Canonical Allele Identifier: PA2825460122
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 554969
ClinVar RCV Id: RCV000670700 RCV001805792 RCV003129985 RCV004026116
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Arg178His
CA8814889
NM_001079803.3:c.533G>A