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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
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      "coordinates": [
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          "allele": "T",
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          "endIntronDirection": "-",
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          "start": 349,
          "startIntronDirection": "-",
          "startIntronOffset": 1735
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      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.199-1735C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:n.199-1735C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
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        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
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        "protein": {
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          "RefSeq": {
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS720583"
    }
  ],
  "type": "nucleotide"
}