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        "NM_001258332.2:c.39G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245261.1:p.Glu13Asp",
        "hgvsWellDefined": "NP_001245261.1:p.Glu13Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714940"
    }
  ],
  "type": "nucleotide"
}