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      "referenceSequence": "http://reg.genome.network/refseq/RS544318"
    },
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      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS544319"
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      ],
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    },
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    },
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      "gene": "http://reg.genome.network/gene/GN002183",
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      "gene": "http://reg.genome.network/gene/GN002183",
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      "referenceSequence": "http://reg.genome.network/refseq/RS580684"
    },
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      ],
      "gene": "http://reg.genome.network/gene/GN002183",
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      "geneSymbol": "VPS13B",
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      ],
      "proteinEffect": {
        "hgvs": "NP_060360.3:p.Gln2140Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS728272",
      "MANE": {
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        "maneStatus": "MANE Plus Clinical",
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        },
        "protein": {
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          }
        }
      }
    },
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      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
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      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS729400",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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        },
        "protein": {
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          "RefSeq": {
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          }
        }
      }
    }
  ],
  "type": "nucleotide"
}