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      "hgvs": [
        "NM_130804.3:c.1018C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_570716.2:p.Arg340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784289"
    }
  ],
  "type": "nucleotide"
}