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          "RefSeq": {
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          "Ensembl": {
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            "hgvs": "NP_001104262.1:p.Ser25Ter"
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        }
      }
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      "coordinates": [
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          "allele": "G",
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          "start": 417
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      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
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      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN006990",
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      "referenceSequence": "http://reg.genome.network/refseq/RS691616"
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      "coordinates": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS691619"
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      "gene": "http://reg.genome.network/gene/GN006990",
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      "referenceSequence": "http://reg.genome.network/refseq/RS724415"
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      "gene": "http://reg.genome.network/gene/GN006990",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
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    {
      "@id": "http://reg.genome.network/allele/PA2829564776",
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      "gene": "http://reg.genome.network/gene/GN006990",
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      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Ser13Ter",
        "hgvsWellDefined": "NP_004983.1:p.Ser13_Ser486delinsGluAspGlnAspLeuGlnGlyLeuLysAspLysProLeuLysPheLysLysValLysLysAspLysLysGluGluLysGluGlyLysHisGluProValGlnProSerAlaHisHisSerAlaGluProAlaGluAlaGlyLysAlaGluThrSerGluGlySerGlySerAlaProAlaValProGluAlaSerAlaSerProLysGlnArgArgSerIleIleArgAspArgGlyProMetTyrAspAspProThrLeuProGluGlyTrpThrArgLysLeuLysGlnArgLysSerGlyArgSerAlaGlyLysTyrAspValTyrLeuIleAsnProGlnGlyLysAlaPheArgSerLysValGluLeuIleAlaTyrPheGluLysValGlyAspThrSerLeuAspProAsnAspPheAspPheThrValThrGlyArgGlySerProSerArgArgGluGlnLysProProLysLysProLysSerProLysAlaProGlyThrGlyArgGlyArgGlyArgProLysGlySerGlyThrThrArgProLysAlaAlaThrSerGluGlyValGlnValLysArgValLeuGluLysSerProGlyLysLeuLeuValLysMetProPheGlnThrSerProGlyGlyLysAlaGluGlyGlyGlyAlaThrThrSerThrGlnValMetValIleLysArgProGlyArgLysArgLysAlaGluAlaAspProGlnAlaIleProLysLysArgGlyArgLysProGlySerValValAlaAlaAlaAlaAlaGluAlaLysLysLysAlaValLysGluSerSerIleArgSerValGlnGluThrValLeuProIleLysLysArgLysThrArgGluThrValSerIleGluValLysGluValValLysProLeuLeuValSerThrLeuGlyGluLysSerGlyLysGlyLeuLysThrCysLysSerProGlyArgLysSerLysGluSerSerProLysGlyArgSerSerSerAlaSerSerProProLysLysGluHisHisHisHisHisHisHisSerGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
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          "RefSeq": {
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        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Ser13Ter"
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          "RefSeq": {
            "hgvs": "NP_004983.1:p.Ser13Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}