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"G", "end": 1434, "referenceAllele": "C", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647013.1:c.1434C>G" ], "proteinEffect": { "hgvs": "ENSP00000496741.1:p.Tyr478Ter", "hgvsWellDefined": "ENSP00000496741.1:p.Tyr478_Cys524delinsAlaTrpGluAsnIlePheArgThrArgValGluThrThrArgArgLysGluMetThrSerLeuArgAlaPheAlaIleTyrThrSerIleSerIlePheMetAsnThrAlaIleProIleAlaAlaValLeuIleCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769189" }, { "coordinates": [ { "allele": "G", "end": 1604, "referenceAllele": "C", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647015.1:c.1536C>G" ], "proteinEffect": { "hgvs": "ENSP00000495389.1:p.Tyr512Ter", "hgvsWellDefined": 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