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      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386138.1:c.541del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373067.1:p.Glu181SerfsTer5",
        "hgvsWellDefined": "NP_001373067.1:p.[Glu181_Leu185del;Ser187_Met195del;Gly198_Pro210delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1189,
          "referenceAllele": "G",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386139.1:c.541del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373068.1:p.Glu181SerfsTer5",
        "hgvsWellDefined": "NP_001373068.1:p.[Glu181_Leu185del;Ser187_Met195del;Gly198_Pro210delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1422,
          "referenceAllele": "G",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.1210del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Glu404SerfsTer5",
        "hgvsWellDefined": "NP_004983.1:p.[Glu404_Leu408del;Ser410_Met418del;Gly421_Pro433delinsThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.1210del"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.1210del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Glu404SerfsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Glu404SerfsTer5"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}