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          "end": 441,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 441,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.3:c.298-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:n.298-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669413",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.298-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.298-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:n.298-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:n.298-1G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}