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        "NM_001379482.1:c.594C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366411.1:p.Asp198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829108607",
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "NM_001386298.1:c.594C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373227.1:p.Asp198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724487",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000681038.1:c.594C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001386298.1:c.594C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000505728.1:p.Asp198="
          },
          "RefSeq": {
            "hgvs": "NP_001373227.1:p.Asp198="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}