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      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.2:c.1432T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Cys478Ser",
        "hgvsWellDefined": "NP_001293139.1:p.Cys478Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683870"
    }
  ],
  "type": "nucleotide"
}