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      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
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        "hgvsWellDefined": "NP_001361726.1:p.Asp176Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS693367"
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          "allele": "T",
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          "referenceAllele": "A",
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      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
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      "hgvs": [
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        "hgvsWellDefined": "NP_001361727.1:p.Asp117Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS693368"
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      "@id": "http://reg.genome.network/allele/PA103025",
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      "gene": "http://reg.genome.network/gene/GN023657",
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      "hgvs": [
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      "MANE": {
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        "maneStatus": "MANE Select",
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}