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    {
      "@id": "http://reg.genome.network/allele/PA2828036639",
      "coordinates": [
        {
          "allele": "A",
          "end": 919,
          "referenceAllele": "C",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354919.2:c.419C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341848.1:p.Ser140Ter",
        "hgvsWellDefined": "NP_001341848.1:p.Ser140_Leu183delinsGlyGluLeuIleThrGluThrGlyTyrMetAspGlnIleIleGluTyrLeuTyrProCysLeuIleIleThrProLeuAspCysPheTrpGluGlyAlaLysLeuGlnSerGlyThrAlaTyrLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720583"
    }
  ],
  "type": "nucleotide"
}