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      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_016873666.1:n.6035-12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570181"
    },
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      "coordinates": [
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          "end": 6081,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "C",
          "start": 6081,
          "startIntronDirection": "-",
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      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018178.1:c.6035-12C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873667.1:n.6035-12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570182"
    },
    {
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
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      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS696863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533211.6:c.6035-12C>T"
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          "RefSeq": {
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    }
  ],
  "type": "nucleotide"
}