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      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NR_146313.2:n.767A>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS704342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 838,
          "referenceAllele": "A",
          "start": 837
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      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
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      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_071364.4:p.Ile84Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS728565",
      "MANE": {
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        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS731249"
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  "type": "nucleotide"
}