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      "hgvs": [
        "NM_080629.3:c.962A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542196.2:p.Tyr321Phe",
        "hgvsWellDefined": "NP_542196.2:p.Tyr321Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729046"
    }
  ],
  "type": "nucleotide"
}