Canonical Allele Identifier: PA2825460516
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 325782
ClinVar RCV Id: RCV000285433 RCV000498412 RCV002265734
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Ser254Leu
CA8815009
NM_001079803.3:c.761C>T