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          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.298C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Leu100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.298C="
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.298C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Leu100="
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Leu100="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}