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      "proteinEffect": {
        "hgvs": "NP_001288000.1:p.Gln460Ter",
        "hgvsWellDefined": "NP_001288000.1:p.Gln460_Gln608delinsGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683334"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828115803",
      "coordinates": [
        {
          "allele": "T",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001363811.2:c.946C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350740.1:p.Gln316Ter",
        "hgvsWellDefined": "NP_001350740.1:p.Gln316_Gln464delinsGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690778"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826431583",
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "C",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001256896.2:c.448C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243825.1:p.Gln150Ter",
        "hgvsWellDefined": "NP_001243825.1:p.Gln150_Pro194delinsGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysValAsnProProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714852"
    }
  ],
  "type": "nucleotide"
}