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      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
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    {
      "@id": "http://reg.genome.network/allele/PA2827784106",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.5797C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Arg1933Ter",
        "hgvsWellDefined": "NP_001159435.1:p.Arg1933_Lys2009delinsThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.5797C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.5797C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Arg1933Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Arg1933Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}