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      "coordinates": [
        {
          "allele": "C",
          "end": 1280,
          "referenceAllele": "C",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "NM_007375.4:c.1178C="
      ],
      "proteinEffect": {
        "hgvs": "NP_031401.1:p.Ser393="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000240185.8:c.1178C="
          },
          "RefSeq": {
            "hgvs": "NM_007375.4:c.1178C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000240185.4:p.Ser393="
          },
          "RefSeq": {
            "hgvs": "NP_031401.1:p.Ser393="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}