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      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NM_015175.3:c.2486C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055990.1:p.Thr829Met",
        "hgvsWellDefined": "NP_055990.1:p.Thr829Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450053.8:c.2486C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015175.3:c.2486C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000415034.2:p.Thr829Met"
          },
          "RefSeq": {
            "hgvs": "NP_055990.1:p.Thr829Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}