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          "allele": "C",
          "end": 644,
          "endIntronDirection": "-",
          "endIntronOffset": 39,
          "referenceAllele": "C",
          "start": 644,
          "startIntronDirection": "-",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386138.1:c.-128-40C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373067.1:n.-128-40C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 520,
          "endIntronDirection": "-",
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          "referenceAllele": "C",
          "start": 520,
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          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386139.1:c.-128-40C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373068.1:n.-128-40C="
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      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829565044",
      "coordinates": [
        {
          "allele": "C",
          "end": 714,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.502C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Arg168="
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      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.502C="
          },
          "RefSeq": {
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        },
        "protein": {
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          "RefSeq": {
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        }
      }
    }
  ],
  "type": "nucleotide"
}