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        {
          "allele": "A",
          "end": 1807,
          "referenceAllele": "G",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002186",
      "geneNCBI_id": 1301,
      "geneSymbol": "COL11A1",
      "hgvs": [
        "NM_080629.3:c.1463G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_542196.2:p.Arg488His",
        "hgvsWellDefined": "NP_542196.2:p.Arg488His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729046"
    }
  ],
  "type": "nucleotide"
}