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          "referenceAllele": "T",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NM_006783.5:c.212T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006774.2:p.Val71Ala",
        "hgvsWellDefined": "NP_006774.2:p.Val71Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727779"
    }
  ],
  "type": "nucleotide"
}