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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005257251.1:p.[His199_Ser206delinsAlaCysProGlnProGlyThrVal;Pro207_Leu208insThr;Tyr209_Phe218delinsGlnArgGlyValLeuArgGlyAlaLeuArg;Val220_Asp227delinsAspArgAlaProAlaAlaGlyArg]
CA2965194681
XM_005257194.4:c.593dup