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      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_013987.3:c.245C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054642.2:p.Ala82Val",
        "hgvsWellDefined": "NP_054642.2:p.Ala82Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 269,
          "endIntronDirection": "+",
          "endIntronOffset": 180618,
          "referenceAllele": "C",
          "start": 269,
          "startIntronDirection": "+",
          "startIntronOffset": 180617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008607",
      "geneNCBI_id": 5071,
      "geneSymbol": "PRKN",
      "hgvs": [
        "NM_013988.3:c.171+180618C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054643.2:n.171+180618C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697162"
    }
  ],
  "type": "nucleotide"
}