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          "allele": "T",
          "end": 1864,
          "endIntronDirection": "-",
          "endIntronOffset": 592,
          "referenceAllele": "T",
          "start": 1864,
          "startIntronDirection": "-",
          "startIntronOffset": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019082",
      "geneNCBI_id": 259232,
      "geneSymbol": "NALCN",
      "hgvs": [
        "NM_001350751.2:c.1753-593T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001337680.1:n.1753-593T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688477"
    }
  ],
  "type": "nucleotide"
}