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"geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.3:c.4356G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Trp1452Ter", "hgvsWellDefined": "NP_001274103.1:p.Trp1452_Lys1582delinsGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716342" } ], "type": "nucleotide" }