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        "NM_001083607.3:c.293+2T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:n.293+2T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828036786",
      "coordinates": [
        {
          "allele": "G",
          "end": 1050,
          "referenceAllele": "T",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354919.2:c.550T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341848.1:p.Ter184Glu",
        "hgvsWellDefined": "NP_001341848.1:p.Leu183_Ter184insGluValCysAspHisAlaPhe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720583"
    }
  ],
  "type": "nucleotide"
}