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      ],
      "gene": "http://reg.genome.network/gene/GN009585",
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      "hgvs": [
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      "proteinEffect": {
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    },
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      "gene": "http://reg.genome.network/gene/GN009585",
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043008",
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001341848.1:p.Glu99_Leu183delinsGlyAlaAsnValLeuThrThrGluAlaLeuLeuGlnHisLeuAspSerAlaLeuGlnAlaSerArgValHisValTyrMetTyrAsnArgGlnTrpLysLeuGluHisLeuCysTyrLysSerGlyGluLeuIleThrGluThrGlyTyrMetAspGlnIleIleGluTyrLeuTyrProCysLeuIleIleThrProLeuAspCysPheTrpGluGlyAlaLysLeuGlnSerGlyThrAlaTyrLeuLeuTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS720583"
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  "type": "nucleotide"
}