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          "allele": "",
          "end": 2371,
          "referenceAllele": "T",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NM_152564.5:c.2268del"
      ],
      "proteinEffect": {
        "hgvs": "NP_689777.3:p.Val757TyrfsTer16"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729400",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357162.7:c.2268del"
          },
          "RefSeq": {
            "hgvs": "NM_152564.5:c.2268del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349685.2:p.Val757TyrfsTer16"
          },
          "RefSeq": {
            "hgvs": "NP_689777.3:p.Val757TyrfsTer16"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}