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          "allele": "C",
          "end": 5602,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 5602,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_203447.4:c.5490+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_982272.2:n.5490+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730068",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432829.7:c.5490+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_203447.4:c.5490+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394888.3:n.5490+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_982272.2:n.5490+2T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}