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        "NM_172195.4:c.686G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_751945.2:p.Arg229Leu",
        "hgvsWellDefined": "NP_751945.2:p.Arg229Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729538"
    }
  ],
  "type": "nucleotide"
}