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      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.4:c.838G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Gly280Ter",
        "hgvsWellDefined": "NP_006484.2:p.Gly280_Leu358delinsAsnLysThrLeuGlyLeuAlaIleLysArgPheTyrTyrProPheLysProHisLeuProThrLysGluPheLeuLeuSerLeuLeuGlnIlePheAspAlaValIleValHisLysGlnPheTyrLeuPheTyrAsnPheGluTyrTrpPheLeuProMetLysPheProPheIleLysIleThrTyrGluGluIleProLeuProIleArgAsnLysThrLeuSerGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.838G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.838G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Gly280Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Gly280Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}