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          "end": 801,
          "referenceAllele": "G",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354919.2:c.301G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341848.1:p.Ala101Thr",
        "hgvsWellDefined": "NP_001341848.1:p.Ala101Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720583"
    }
  ],
  "type": "nucleotide"
}