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      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_004376.7:c.664C>T"
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        "hgvs": "NP_004367.2:p.Arg222Cys",
        "hgvsWellDefined": "NP_004367.2:p.Arg222Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696121"
    },
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      "@id": "http://reg.genome.network/allele/PA2830154269",
      "coordinates": [
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          "allele": "T",
          "end": 742,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_078470.6:c.664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_510870.1:p.Arg222Cys",
        "hgvsWellDefined": "NP_510870.1:p.Arg222Cys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS699495",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
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        "protein": {
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS705670"
    }
  ],
  "type": "nucleotide"
}