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      "hgvs": [
        "NM_172337.3:c.126G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_758840.1:p.Arg42Ser",
        "hgvsWellDefined": "NP_758840.1:p.Arg42Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700522"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 384,
          "endIntronDirection": "+",
          "endIntronOffset": 1049,
          "referenceAllele": "G",
          "start": 384,
          "startIntronDirection": "+",
          "startIntronOffset": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NR_073034.2:n.384+1049G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702647"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 308,
          "endIntronDirection": "+",
          "endIntronOffset": 1049,
          "referenceAllele": "G",
          "start": 308,
          "startIntronDirection": "+",
          "startIntronOffset": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NR_073036.2:n.308+1049G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702648"
    }
  ],
  "type": "nucleotide"
}