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        {
          "allele": "C",
          "end": 1543,
          "referenceAllele": "T",
          "start": 1542
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      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_146315.2:n.1543T>C"
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      "referenceSequence": "http://reg.genome.network/refseq/RS704343"
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      "@id": "http://reg.genome.network/allele/PA2829964768",
      "coordinates": [
        {
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          "end": 1518,
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      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NM_022081.6:c.930T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071364.4:p.Asp310="
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      "referenceSequence": "http://reg.genome.network/refseq/RS728565",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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        "protein": {
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      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN015844",
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      "geneSymbol": "HPS4",
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      "referenceSequence": "http://reg.genome.network/refseq/RS731249"
    }
  ],
  "type": "nucleotide"
}