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      "coordinates": [
        {
          "allele": "G",
          "end": 2330,
          "referenceAllele": "G",
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      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "NM_000920.4:c.2229G="
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      "proteinEffect": {
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      "geneNCBI_id": 5091,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS675997",
      "MANE": {
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        "maneStatus": "MANE Select",
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      "gene": "http://reg.genome.network/gene/GN008636",
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      "referenceSequence": "http://reg.genome.network/refseq/RS698524"
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  "type": "nucleotide"
}