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"geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_001272003.2:c.961dup" ], "proteinEffect": { "hgvs": "NP_001258932.1:p.His321ProfsTer?", "hgvsWellDefined": "NP_001258932.1:p.[His321_Arg322delinsProProCys;Gln324_Thr325delinsAspGly;Lys327_Leu331delinsAlaArgGlyProVal;Val333_Ser335delinsGln;Lys337_Ile338delinsProGln;Leu340_Phe344delinsArgProSerHisGly;Asn346Pro;Phe348_Ala350delinsArgValLeuArg]" }, "referenceSequence": "http://reg.genome.network/refseq/RS681247" } ], "type": "nucleotide" }