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        "hgvs": "NP_001356327.1:p.Arg396Ter",
        "hgvsWellDefined": "NP_001356327.1:p.Arg396_Val449delinsAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658809924",
      "coordinates": [
        {
          "allele": "T",
          "end": 2560,
          "referenceAllele": "C",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_005592.4:c.2446C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005583.1:p.Arg816Ter",
        "hgvsWellDefined": "NP_005583.1:p.Arg816_Val869delinsAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374448.9:c.2446C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005592.4:c.2446C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363571.4:p.Arg816Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005583.1:p.Arg816Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}