Canonical Allele Identifier: PA2825442119
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2198416
ClinVar RCV Id: RCV002629370
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Glu346Gln
CA401364670
NM_001079804.3:c.1036G>C