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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000460543.1:p.[Trp126_Phe129delinsValLeuLeu;Pro131_Tyr133delinsThrGlnLeu;Ser135_Lys137delinsGln;Glu139_Ser144delinsGlnAlaGlyGluPro;Met146_Thr151delinsLeu;Arg154_Thr156del]
CA913014078
ENST00000570803.5:c.375_376del