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      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.4:c.2141+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:n.2141+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2538,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2538,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.5:c.2213+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:n.2213+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699223"
    }
  ],
  "type": "nucleotide"
}