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      "geneSymbol": "PUS1",
      "hgvs": [
        "NM_025215.6:c.717C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079491.2:p.Tyr239Ter",
        "hgvsWellDefined": "NP_079491.2:p.Tyr239_Asp427delinsLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376649.8:c.717C>A"
          },
          "RefSeq": {
            "hgvs": "NM_025215.6:c.717C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365837.3:p.Tyr239Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079491.2:p.Tyr239Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}