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          "allele": "A",
          "end": 2793,
          "referenceAllele": "G",
          "start": 2792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.2556G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Trp852Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.2556G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.2556G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Trp852Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Trp852Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}