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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.[Pro194Ala;Glu196_Thr197delinsGlyAsp;His199_Ser206delinsAlaCysProGlnProGlyThrVal;Pro207_Leu208insThr;Tyr209_Phe218delinsGlnArgGlyValLeuArgGlyAlaLeuArg;Val220_Arg223delinsAspArgAla]
CA2576660839
ENST00000302262.8:c.579dup