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          "referenceAllele": "CT",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002074",
      "geneNCBI_id": 1201,
      "geneSymbol": "CLN3",
      "hgvs": [
        "NM_001286110.2:c.119_120del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273039.1:p.Ser40CysfsTer?",
        "hgvsWellDefined": "NP_001273039.1:p.[Ser40_Pro53delinsCysLeuTyrGlyCysCysAlaProGlyGlyHisProProHis;Leu55_Val56delinsArgHisGln;Lys58_Leu67delinsValGlySerSerTrpProSerProAlaAla;Pro69_Tyr70del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682142"
    }
  ],
  "type": "nucleotide"
}