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  "communityStandardTitle": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS664516"
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      "referenceSequence": "http://reg.genome.network/refseq/RS664517"
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      "referenceSequence": "http://reg.genome.network/refseq/RS673380"
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      "referenceSequence": "http://reg.genome.network/refseq/RS674792"
    },
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      "@id": "http://reg.genome.network/allele/PA2825376220",
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        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN010295",
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      "hgvs": [
        "NM_001034853.2:c.1387C>T"
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      "proteinEffect": {
        "hgvs": "NP_001030025.1:p.Gln463Ter",
        "hgvsWellDefined": "NP_001030025.1:p.Gln463_Lys1152delinsAspLeuMetGlnProGluGluProAspTyrLeuLeuAspGluMetThrLysGluAlaGluIleAspAsnSerSerThrValGluSerLeuGlyGluThrThrAspIleLeuAsnMetThrHisIleMetSerLeuAsnSerAsnGluLysSerLeuLysLeuSerProValGlnLysGlnLysLysGlnGlnThrIleGlyGluLeuThrGlnAspThrAlaLeuThrGluAsnAspAspSerAspGluTyrGluGluMetSerGluMetLysGluGlyLysAlaCysLysGlnHisValSerGlnGlyIlePheMetThrGlnProAlaThrThrIleGluAlaPheSerAspGluGluValGluIleProGluGluLysGluGlyAlaGluAspSerLysGlyAsnGlyIleGluGluGlnGluValGluAlaAsnGluGluAsnValLysValHisGlyGlyArgLysGluLysThrGluIleLeuSerAspAspLeuThrAspLysAlaGluValSerGluGlyLysAlaLysSerValGlyGluAlaGluAspGlyProGluGlyArgGlyAspGlyThrCysGluGluGlySerSerGlyAlaGluHisTrpGlnAspGluGluArgGluLysGlyGluLysAspLysGlyArgGlyGluMetGluArgProGlyGluGlyGluLysGluLeuAlaGluLysGluGluTrpLysLysArgAspGlyGluGluGlnGluGlnLysGluArgGluGlnGlyHisGlnLysGluArgAsnGlnGluMetGluGluGlyGlyGluGluGluHisGlyGluGlyGluGluGluGluGlyAspArgGluGluGluGluGluLysGluGlyGluGlyLysGluGluGlyGluGlyGluGluValGluGlyGluArgGluLysGluGluGlyGluArgLysLysGluGluArgAlaGlyLysGluGluLysGlyGluGluGluGlyAspGlnGlyGluGlyGluGluGluGluThrGluGlyArgGlyGluGluLysGluGluGlyGlyGluValGluGlyGlyGluValGluGluGlyLysGlyGluArgGluGluGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGluGlyGluValGluGlyGluValGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGluGluGlyGluGluArgGluLysGluGlyGluGlyGluGluAsnArgArgAsnArgGluGluGluGluGluGluGluGlyLysTyrGlnGluThrGlyGluGluGluAsnGluArgGlnAspGlyGluGluTyrLysLysValSerLysIleLysGlySerValLysTyrGlyLysHisLysThrTyrGlnLysLysSerValThrAsnThrGlnGlyAsnGlyLysGluGlnArgSerLysMetProValGlnSerLysArgLeuLeuLysAsnGlyProSerGlySerLysLysPheTrpAsnAsnValLeuProHisTyrLeuGluLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645032.1:c.1387C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001034853.2:c.1387C>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495537.1:p.Gln463Ter"
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          "RefSeq": {
            "hgvs": "NP_001030025.1:p.Gln463Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}