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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.[Gly344del;Glu346_Val358delinsArgAlaGlnGluArgGlyAlaAlaValProGlyArgCys;Tyr360Ile;Phe362_Trp367delinsValHisAlaAlaIleLeu;Leu369Pro;Phe371_Leu373delinsLeuProProVal]
CA913191005
ENST00000390015.7:c.1030_1031del