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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.[Leu328_Trp330delinsGlyGly;Ser332_Thr333delinsGlnVal;Gly335_Glu346delinsSerTrpMetSerThrSerSerTrpAlaGlnSer;Lys348_Gly359delinsArgAlaTrpCysSerSerThrTrpThrLeuTrpAsp]
CA2695227074
NM_000152.5:c.982_988del