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      "geneNCBI_id": 5358,
      "geneSymbol": "PLS3",
      "hgvs": [
        "NM_001282337.2:c.1432C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269266.1:p.Gln478Ter",
        "hgvsWellDefined": "NP_001269266.1:p.Gln478_Val617delinsThrLeuThrLeuAlaLeuValTrpGlnLeuMetArgArgTyrThrLeuAsnValLeuGluAspLeuGlyAspGlyGlnLysAlaAsnAspAspIleIleValAsnTrpValAsnArgThrLeuSerGluAlaGlyLysSerThrSerIleGlnSerPheLysAspLysThrIleSerSerSerLeuAlaValValAspLeuIleAspAlaIleGlnProGlyCysIleAsnTyrAspLeuValLysSerGlyAsnLeuThrGluAspAspLysHisAsnAsnAlaLysTyrAlaValSerMetAlaArgArgIleGlyAlaArgValTyrAlaLeuProGluAspLeuValGluValLysProLysMetValMetThrValPheAlaCysLeuMetGlyArgGlyMetLysArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681750"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826642219",
      "coordinates": [
        {
          "allele": "T",
          "end": 1943,
          "referenceAllele": "C",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009091",
      "geneNCBI_id": 5358,
      "geneSymbol": "PLS3",
      "hgvs": [
        "NM_001282338.2:c.1336C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269267.1:p.Gln446Ter",
        "hgvsWellDefined": "NP_001269267.1:p.Gln446_Val585delinsThrLeuThrLeuAlaLeuValTrpGlnLeuMetArgArgTyrThrLeuAsnValLeuGluAspLeuGlyAspGlyGlnLysAlaAsnAspAspIleIleValAsnTrpValAsnArgThrLeuSerGluAlaGlyLysSerThrSerIleGlnSerPheLysAspLysThrIleSerSerSerLeuAlaValValAspLeuIleAspAlaIleGlnProGlyCysIleAsnTyrAspLeuValLysSerGlyAsnLeuThrGluAspAspLysHisAsnAsnAlaLysTyrAlaValSerMetAlaArgArgIleGlyAlaArgValTyrAlaLeuProGluAspLeuValGluValLysProLysMetValMetThrValPheAlaCysLeuMetGlyArgGlyMetLysArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681751"
    }
  ],
  "type": "nucleotide"
}