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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000387.1:p.Arg241_Met329delinsValGlyProValSerValAlaIleAspAlaSerLeuThrSerPheGlnPheTyrSerLysGlyValTyrTyrAspGluSerCysAsnSerAspAsnLeuAsnHisAlaValLeuAlaValGlyTyrGlyIleGlnLysGlyAsnLysHisTrpIleIleLysAsnSerTrpGlyGluAsnTrpGlyAsnLysGlyTyrIleLeuMetAlaArgAsnLysAsnAsnAlaCysGlyIleAlaAsnLeuAlaSerPheProLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662426",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000271651.8:c.721C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000396.4:c.721C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000271651.3:p.Arg241Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000387.1:p.Arg241Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}