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        {
          "allele": "T",
          "end": 2014,
          "referenceAllele": "C",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.7:c.1844C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Ser615Leu",
        "hgvsWellDefined": "NP_005467.1:p.Ser615Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.1844C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.1844C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Ser615Leu"
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Ser615Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}