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      "referenceSequence": "http://reg.genome.network/refseq/RS704342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1805,
          "referenceAllele": "A",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_146315.2:n.1805A>C"
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      "referenceSequence": "http://reg.genome.network/refseq/RS704343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829964859",
      "coordinates": [
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          "allele": "C",
          "end": 1780,
          "referenceAllele": "A",
          "start": 1779
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      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_071364.4:p.Arg398="
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      "referenceSequence": "http://reg.genome.network/refseq/RS728565",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
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        "protein": {
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    {
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      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
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      "referenceSequence": "http://reg.genome.network/refseq/RS731249"
    }
  ],
  "type": "nucleotide"
}