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      "hgvs": [
        "NM_001369393.2:c.1087G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356322.1:p.Gly363Ter",
        "hgvsWellDefined": "NP_001356322.1:p.Gly363_Ser393delinsGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828327959",
      "coordinates": [
        {
          "allele": "T",
          "end": 1497,
          "referenceAllele": "G",
          "start": 1496
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.1:c.1087G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Gly363Ter",
        "hgvsWellDefined": "NP_001356323.1:p.Gly363_Ser393delinsGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828327959",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.2:c.1087G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Gly363Ter",
        "hgvsWellDefined": "NP_001356323.1:p.Gly363_Ser393delinsGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721143"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829068928",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
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      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001373066.1:p.Gly233Ter",
        "hgvsWellDefined": "NP_001373066.1:p.Gly233_Ser263delinsGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829069515",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386138.1:c.697G>T"
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      "proteinEffect": {
        "hgvs": "NP_001373067.1:p.Gly233Ter",
        "hgvsWellDefined": "NP_001373067.1:p.Gly233_Ser263delinsGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829069975",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386139.1:c.697G>T"
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      "proteinEffect": {
        "hgvs": "NP_001373068.1:p.Gly233Ter",
        "hgvsWellDefined": "NP_001373068.1:p.Gly233_Ser263delinsGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829565779",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.1366G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Gly456Ter",
        "hgvsWellDefined": "NP_004983.1:p.Gly456_Ser486delinsGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.1366G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.1366G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Gly456Ter"
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          "RefSeq": {
            "hgvs": "NP_004983.1:p.Gly456Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}