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      "proteinEffect": {
        "hgvs": "XP_024305619.1:p.Arg1087Ter",
        "hgvsWellDefined": "XP_024305619.1:p.Arg1087_Arg1175delinsSerSerSerLeuProArgThrSerSerSerSerProSerArgAlaGlyArgProHisHisAspGlnArgSerSerSerProHisLeuGlyArgSerLysSerProProSerHisSerGlySerSerSerSerArgArgSerCysGlnGlnGluHisCysLysProSerLysAsnGlyLeuLysGlySerGlySerLeuHisHisHisSerAlaSerThrLysThrProGlnGlyLysSerLysProAlaSerLysLeuSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583393"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573310746",
      "coordinates": [
        {
          "allele": "T",
          "end": 3874,
          "referenceAllele": "C",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "NM_173500.4:c.3466C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_775771.3:p.Arg1156Ter",
        "hgvsWellDefined": "NP_775771.3:p.Arg1156_Arg1244delinsSerSerSerLeuProArgThrSerSerSerSerProSerArgAlaGlyArgProHisHisAspGlnArgSerSerSerProHisLeuGlyArgSerLysSerProProSerHisSerGlySerSerSerSerArgArgSerCysGlnGlnGluHisCysLysProSerLysAsnGlyLeuLysGlySerGlySerLeuHisHisHisSerAlaSerThrLysThrProGlnGlyLysSerLysProAlaSerLysLeuSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672645",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267890.11:c.3466C>T"
          },
          "RefSeq": {
            "hgvs": "NM_173500.4:c.3466C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267890.6:p.Arg1156Ter"
          },
          "RefSeq": {
            "hgvs": "NP_775771.3:p.Arg1156Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}