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    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9358,
          "referenceAllele": "C",
          "start": 9357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_033071.5:c.8882C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_149062.2:p.Ser2961Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728908"
    }
  ],
  "type": "nucleotide"
}