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      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "XR_002958056.1:n.921C>G"
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    },
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      "@id": "http://reg.genome.network/allele/PA3084484916",
      "coordinates": [
        {
          "allele": "G",
          "end": 439,
          "referenceAllele": "C",
          "start": 438
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      ],
      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_000023.4:c.403C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_000014.1:p.Gln135Glu"
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      "referenceSequence": "http://reg.genome.network/refseq/RS662287",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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    {
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      "gene": "http://reg.genome.network/gene/GN010805",
      "geneNCBI_id": 6442,
      "geneSymbol": "SGCA",
      "hgvs": [
        "NM_001135697.3:c.403C>G"
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS677331"
    },
    {
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      "geneNCBI_id": 6442,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS703679"
    }
  ],
  "type": "nucleotide"
}