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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199400.3:c.3365C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186329.1:p.Ser1122Ter",
        "hgvsWellDefined": "NP_001186329.1:p.Ser1122_Glu1214delinsAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829727410",
      "coordinates": [
        {
          "allele": "A",
          "end": 4109,
          "referenceAllele": "C",
          "start": 4108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_012224.4:c.3497C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036356.1:p.Ser1166Ter",
        "hgvsWellDefined": "NP_036356.1:p.Ser1166_Glu1258delinsAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727853"
    }
  ],
  "type": "nucleotide"
}