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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.[Thr415_Phe424delinsValGlnGlnGlyTrpLeuProGlyLeu;Ala426_Gln433delinsGlyHisGlyAlaGlyAlaAlaPro;Gly435_Pro444delinsArgProAlaLeuHisAspAspArgGlySerCys]
CA2580095334
NM_001079804.3:c.1243_1244del