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      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS664004"
    },
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      "@id": "http://reg.genome.network/allele/PA353047",
      "coordinates": [
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          "allele": "A",
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          "referenceAllele": "T",
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      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000160.1:p.Phe113Ile"
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      "referenceSequence": "http://reg.genome.network/refseq/RS674733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
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}