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      "geneNCBI_id": 51082,
      "geneSymbol": "POLR1D",
      "hgvs": [
        "NM_152705.3:c.26+1002C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_689918.1:n.26+1002C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700249"
    }
  ],
  "type": "nucleotide"
}