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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000460543.2:p.[Glu196_Thr197delinsAsp;His199_Ser206delinsAlaCysProGlnProGlyThrVal;Pro207_Leu208insThr;Tyr209_Phe218delinsGlnArgGlyValLeuArgGlyAlaLeuArg;Val220_Gln225delinsAspArgAlaProAla]
CA2840238209
ENST00000570803.6:c.585_586del