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        {
          "allele": "A",
          "end": 1235,
          "endIntronDirection": "-",
          "endIntronOffset": 401,
          "referenceAllele": "T",
          "start": 1235,
          "startIntronDirection": "-",
          "startIntronOffset": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.2:c.1143-402T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:n.1143-402T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683870"
    }
  ],
  "type": "nucleotide"
}