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        "hgvs": "NP_001353466.1:n.4-14087C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721028"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 216,
          "endIntronDirection": "-",
          "endIntronOffset": 14086,
          "referenceAllele": "C",
          "start": 216,
          "startIntronDirection": "-",
          "startIntronOffset": 14087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011609",
      "geneNCBI_id": 6916,
      "geneSymbol": "TBXAS1",
      "hgvs": [
        "NM_030984.6:c.90-14087C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_112246.3:n.90-14087C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728753"
    }
  ],
  "type": "nucleotide"
}