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          "end": 4053,
          "referenceAllele": "T",
          "start": 4052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.3930T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Asp1310Glu",
        "hgvsWellDefined": "NP_000100.3:p.Asp1310Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139719296",
      "coordinates": [
        {
          "allele": "G",
          "end": 4191,
          "referenceAllele": "T",
          "start": 4190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.3954T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Asp1318Glu",
        "hgvsWellDefined": "NP_003997.2:p.Asp1318Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.3954T>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.3954T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Asp1318Glu"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Asp1318Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}