Canonical Allele Identifier: PA2825460497
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 325781
ClinVar RCV Id: RCV000372885 RCV000497864 RCV002265733
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Ser251Leu
CA8815007
NM_001079803.3:c.752C>T