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      "hgvs": [
        "NM_001352686.2:c.3594T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339615.1:p.Asn1198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720127"
    }
  ],
  "type": "nucleotide"
}