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      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.2:c.300+5255A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.2:n.300+5255A>G"
      },
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    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 8890,
          "referenceAllele": "A",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 8889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.2:c.177+8890A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.2:n.177+8890A>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS664004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA273345",
      "coordinates": [
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          "allele": "C",
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      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NM_000169.3:c.593T>C"
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      "proteinEffect": {
        "hgvs": "NP_000160.1:p.Ile198Thr",
        "hgvsWellDefined": "NP_000160.1:p.Ile198Thr"
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      "referenceSequence": "http://reg.genome.network/refseq/RS674733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
  "type": "nucleotide"
}