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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000374665.3:p.[Gln914_Val921delinsProAlaGlyProLeuGlnArgCys;Val923_Ser929delinsCysLeuGlnLeuHisLeuGln;Asp931_Met943delinsArgHisGlnGlyProGlyHisLeuCysLeuAlaValAsp]
CA8815843
ENST00000390015.7:c.2740dup