Canonical Allele Identifier: PA658801254
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 526530
ClinVar RCV Id: RCV000631074
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Leu328Phe
CA401364463
NM_000152.5:c.982C>T