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          "end": 4854,
          "endIntronDirection": "+",
          "endIntronOffset": 1031,
          "referenceAllele": "C",
          "start": 4854,
          "startIntronDirection": "+",
          "startIntronOffset": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014540",
      "geneNCBI_id": 65125,
      "geneSymbol": "WNK1",
      "hgvs": [
        "NM_213655.5:c.3867+1031C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_998820.3:n.3867+1031C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730159",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340908.9:c.3867+1031C>T"
          },
          "RefSeq": {
            "hgvs": "NM_213655.5:c.3867+1031C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341292.5:n.3867+1031C>T"
          },
          "RefSeq": {
            "hgvs": "NP_998820.3:n.3867+1031C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}