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        "NM_001348913.2:c.*16-4502T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335842.1:n.*16-4502T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719199"
    }
  ],
  "type": "nucleotide"
}