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        "hgvsWellDefined": "XP_016873665.1:p.Arg1065Gln"
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          "allele": "A",
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          "referenceAllele": "G",
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      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS570181"
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      "gene": "http://reg.genome.network/gene/GN011276",
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        "hgvsWellDefined": "XP_016873667.1:p.Arg1065Gln"
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      "referenceSequence": "http://reg.genome.network/refseq/RS570182"
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    {
      "@id": "http://reg.genome.network/allele/PA2573089266",
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      "hgvs": [
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        "hgvsWellDefined": "NP_008877.2:p.Arg1065Gln"
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      "MANE": {
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        "maneStatus": "MANE Select",
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}