Canonical Allele Identifier: PA2825460138
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 499380
ClinVar RCV Id: RCV000594745 RCV000631066
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Thr182Arg
CA8814893
NM_001079803.3:c.545C>G