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          "referenceAllele": "C",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009451",
      "geneNCBI_id": 5624,
      "geneSymbol": "PROC",
      "hgvs": [
        "NM_001375613.1:c.543C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362542.1:p.Phe181Leu",
        "hgvsWellDefined": "NP_001362542.1:p.Phe181Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693707"
    }
  ],
  "type": "nucleotide"
}