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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000459972.2:p.[Asp409_Phe424delinsGluLeuProGluGlyLeuHisValGlnGlnGlyTrpLeuProGlyLeu;Ala426_Gln433delinsGlyHisGlyAlaGlyAlaAlaPro;Gly435_Tyr438delinsArgProAlaLeuHis]
CA915952251
ENST00000572080.2:c.1226_1227insG