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          "end": 790,
          "referenceAllele": "AAG",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.2:c.695_697del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Glu232del",
        "hgvsWellDefined": "NP_001293139.1:p.Glu232del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683870"
    }
  ],
  "type": "nucleotide"
}