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      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001243776.2:c.781-6A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230705.1:n.781-6A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714519"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "endIntronDirection": "+",
          "endIntronOffset": 515,
          "referenceAllele": "A",
          "start": 1008,
          "startIntronDirection": "+",
          "startIntronOffset": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001243777.2:c.807+515A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230706.1:n.807+515A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1321,
          "endIntronDirection": "-",
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          "referenceAllele": "A",
          "start": 1321,
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          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001350533.1:n.727-6A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720762"
    }
  ],
  "type": "nucleotide"
}