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        "hgvsWellDefined": "XP_011508327.1:p.Arg377_Thr420delinsTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541543"
    },
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      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_017002417.1:c.1129C>T"
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      "proteinEffect": {
        "hgvs": "XP_016857906.1:p.Arg377Ter",
        "hgvsWellDefined": "XP_016857906.1:p.Arg377_Tyr407delinsTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558376"
    },
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      "coordinates": [
        {
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          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
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        "hgvsWellDefined": "XP_024305806.1:p.Arg312_Thr355delinsTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer"
      },
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    },
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      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN020073",
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        "hgvsWellDefined": "XP_024305807.1:p.Arg312_Tyr342delinsTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583581"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827344405",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN020073",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001317652.1:p.Arg498Ter",
        "hgvsWellDefined": "NP_001317652.1:p.Arg498_Thr541delinsTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS664409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000458013.7:c.1492C>T"
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        "protein": {
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      "@id": "http://reg.genome.network/allele/PA2580476018",
      "coordinates": [
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      "hgvs": [
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        "hgvsWellDefined": "NP_112180.4:p.Arg498_Tyr528delinsTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698899"
    }
  ],
  "type": "nucleotide"
}