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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000374665.3:p.[Phe767del;Thr771_Leu786delinsHisMetValArgProAlaAspGlyAlaSerArgGlyProTrpGln;Pro789Thr;Ala791_Glu795delinsThrCysSerSer]
CA913014067
ENST00000390015.7:c.2298_2299del