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        "NM_002921.4:c.196A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002912.2:p.Ser66Arg",
        "hgvsWellDefined": "NP_002912.2:p.Ser66Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727332"
    }
  ],
  "type": "nucleotide"
}