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        "hgvsWellDefined": "XP_011534326.1:p.Trp277_Asp353delinsGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGlnLeuGluAspThrGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552291"
    },
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      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011534327.1:p.Trp277Ter",
        "hgvsWellDefined": "XP_011534327.1:p.Trp277_Phe350delinsGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGlyLeuArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552292"
    },
    {
      "coordinates": [
        {
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      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743546.2:n.861G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS592715"
    },
    {
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      "gene": "http://reg.genome.network/gene/GN000987",
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      "referenceSequence": "http://reg.genome.network/refseq/RS592716"
    },
    {
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN000987",
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      "geneSymbol": "BCKDHB",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS592717"
    },
    {
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      "gene": "http://reg.genome.network/gene/GN000987",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS592718"
    },
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      "gene": "http://reg.genome.network/gene/GN000987",
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      "referenceSequence": "http://reg.genome.network/refseq/RS602454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139758097",
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      "gene": "http://reg.genome.network/gene/GN000987",
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      "geneSymbol": "BCKDHB",
      "hgvs": [
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      },
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      "MANE": {
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        "maneStatus": "MANE Select",
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          "RefSeq": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS703545"
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    {
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        "hgvsWellDefined": "NP_000047.1:p.Trp277_Tyr392delinsGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710793"
    }
  ],
  "type": "nucleotide"
}