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        "hgvs": "XP_006719900.1:p.Gln1367Ter",
        "hgvsWellDefined": "XP_006719900.1:p.Gln1367_Ile1433delinsValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
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      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN000870",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011533419.1:p.Gln1367_Ile1433delinsValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
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    {
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      "gene": "http://reg.genome.network/gene/GN000870",
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        "hgvsWellDefined": "XP_016876116.1:p.Gln1367_Ile1433delinsValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
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      "gene": "http://reg.genome.network/gene/GN000870",
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      "hgvs": [
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        "hgvsWellDefined": "NP_000044.2:p.Gln1399_Ile1465delinsValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
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      "MANE": {
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        "maneStatus": "MANE Select",
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          "RefSeq": {
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        "protein": {
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            "hgvs": "ENSP00000242839.5:p.Gln1399Ter"
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            "hgvs": "NP_000044.2:p.Gln1399Ter"
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    {
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      "gene": "http://reg.genome.network/gene/GN000870",
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    {
      "@id": "http://reg.genome.network/allele/PA2826318656",
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      "gene": "http://reg.genome.network/gene/GN000870",
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      "hgvs": [
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        "hgvsWellDefined": "NP_001230111.1:p.Gln1288_Ile1354delinsValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
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      "@id": "http://reg.genome.network/allele/PA2827327446",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN000870",
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      "geneSymbol": "ATP7B",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Gln1321Ter",
        "hgvsWellDefined": "NP_001317507.1:p.Gln1321_Ile1387delinsValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
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  "type": "nucleotide"
}