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      "geneSymbol": "PKHD1",
      "hgvs": [
        "XR_001743469.1:n.8326C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592682"
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      "@id": "http://reg.genome.network/allele/PA3072656055",
      "coordinates": [
        {
          "allele": "C",
          "end": 8314,
          "referenceAllele": "C",
          "start": 8313
        }
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      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_138694.4:c.8050C="
      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS699767",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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    {
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          "end": 8314,
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      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS700451"
    }
  ],
  "type": "nucleotide"
}