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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000305692.3:p.[Trp402_Ser410delinsGluArgHisGlyThrValCysTrpGlyLeu;Asp413_Asp419delinsArgSerArgValValAlaAla;Phe421delinsArgProMetGlu;Asp423_Phe424delinsProGlyLeuHisGlyLeu;Ala426_Met427delinsGluGlyLeuHis;Glu430delinsGlnGlyTrp;Leu431_His432insProGlyLeuProGlyHisGlyAlaGlyAla]
CA2504127085
ENST00000302262.8:c.1203_1204insGAACGACACGGGACCGTCTGCTGGGGCCT...