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        {
          "allele": "C",
          "end": 310,
          "referenceAllele": "T",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027561",
      "geneNCBI_id": 283989,
      "geneSymbol": "TSEN54",
      "hgvs": [
        "NM_207346.3:c.277T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_997229.2:p.Ser93Pro",
        "hgvsWellDefined": "NP_997229.2:p.Ser93Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673297",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000333213.11:c.277T>C"
          },
          "RefSeq": {
            "hgvs": "NM_207346.3:c.277T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327487.6:p.Ser93Pro"
          },
          "RefSeq": {
            "hgvs": "NP_997229.2:p.Ser93Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}