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    },
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          "startIntronDirection": "-",
          "startIntronOffset": 7952
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      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.2:c.301-7952C>G"
      ],
      "proteinEffect": {
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    },
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      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS664004"
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      "geneSymbol": "GLA",
      "hgvs": [
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        "hgvsWellDefined": "NP_000160.1:p.Glu66Gln"
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      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
  "type": "nucleotide"
}