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      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001363811.2:c.955G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350740.1:p.Glu319Ter",
        "hgvsWellDefined": "NP_001350740.1:p.Glu319_Gln464delinsAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690778"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826431591",
      "coordinates": [
        {
          "allele": "T",
          "end": 1155,
          "referenceAllele": "G",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001256896.2:c.457G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243825.1:p.Glu153Ter",
        "hgvsWellDefined": "NP_001243825.1:p.Glu153_Pro194delinsAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysValAsnProProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714852"
    }
  ],
  "type": "nucleotide"
}