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      "referenceSequence": "http://reg.genome.network/refseq/RS676501"
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        "hgvsWellDefined": "NP_001288068.1:p.Arg302_Pro396delinsGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS683363"
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      "referenceSequence": "http://reg.genome.network/refseq/RS687418"
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      "referenceSequence": "http://reg.genome.network/refseq/RS687419"
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      "gene": "http://reg.genome.network/gene/GN010808",
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      "referenceSequence": "http://reg.genome.network/refseq/RS687420"
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    {
      "@id": "http://reg.genome.network/allele/PA2827383707",
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      "referenceSequence": "http://reg.genome.network/refseq/RS687421"
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    {
      "@id": "http://reg.genome.network/allele/PA2828066327",
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      "gene": "http://reg.genome.network/gene/GN010808",
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      "referenceSequence": "http://reg.genome.network/refseq/RS690548"
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      "referenceSequence": "http://reg.genome.network/refseq/RS690549"
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      "@id": "http://reg.genome.network/allele/PA2828066919",
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN010808",
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      "referenceSequence": "http://reg.genome.network/refseq/RS690550"
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    {
      "@id": "http://reg.genome.network/allele/PA2829454141",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN010808",
      "geneNCBI_id": 8910,
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_003910.1:p.Arg343_Pro437delinsGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS695983",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000648936.2:c.1024C>T"
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          "RefSeq": {
            "hgvs": "NM_003919.3:c.1024C>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497130.1:p.Arg342Ter"
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          "RefSeq": {
            "hgvs": "NP_003910.1:p.Arg342Ter"
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    }
  ],
  "type": "nucleotide"
}