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          "startIntronDirection": "-",
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      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001077072.1:n.199-1700C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
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        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
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          "RefSeq": {
            "hgvs": "NP_001077072.1:n.199-1700C>T"
          }
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      }
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    {
      "coordinates": [
        {
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          "endIntronDirection": "-",
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          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS720583"
    }
  ],
  "type": "nucleotide"
}