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      "referenceSequence": "http://reg.genome.network/refseq/RS585878"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_024308152.1:p.Ser280Ter",
        "hgvsWellDefined": "XP_024308152.1:p.Ser280_Ser393delinsGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA232893",
      "coordinates": [
        {
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          "end": 1206,
          "referenceAllele": "C",
          "start": 1205
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
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      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.2:c.1154C>G"
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      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Ser385Ter",
        "hgvsWellDefined": "NP_001104262.1:p.Ser385_Ser498delinsGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676663",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.1154C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.1154C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Ser385Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Ser385Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826956100",
      "coordinates": [
        {
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          "start": 1497
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Ser280Ter",
        "hgvsWellDefined": "NP_001303266.1:p.Ser280_Ser393delinsGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828325582",
      "coordinates": [
        {
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          "referenceAllele": "C",
          "start": 1792
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
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      "geneSymbol": "MECP2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001356320.1:p.Ser280_Ser393delinsGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828326447",
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "C",
          "start": 1441
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
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      "geneSymbol": "MECP2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001356321.1:p.Ser280Ter",
        "hgvsWellDefined": "NP_001356321.1:p.Ser280_Ser393delinsGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828327314",
      "coordinates": [
        {
          "allele": "G",
          "end": 1318,
          "referenceAllele": "C",
          "start": 1317
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369393.2:c.839C>G"
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      "proteinEffect": {
        "hgvs": "NP_001356322.1:p.Ser280Ter",
        "hgvsWellDefined": "NP_001356322.1:p.Ser280_Ser393delinsGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828328144",
      "coordinates": [
        {
          "allele": "G",
          "end": 1249,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.1:c.839C>G"
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      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Ser280Ter",
        "hgvsWellDefined": "NP_001356323.1:p.Ser280_Ser393delinsGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828328144",
      "coordinates": [
        {
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          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
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      "geneSymbol": "MECP2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Ser280Ter",
        "hgvsWellDefined": "NP_001356323.1:p.Ser280_Ser393delinsGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721143"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829068707",
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "C",
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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.Ser150Ter",
        "hgvsWellDefined": "NP_001373066.1:p.Ser150_Ser263delinsGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829069294",
      "coordinates": [
        {
          "allele": "G",
          "end": 1221,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
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      "geneSymbol": "MECP2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001373067.1:p.Ser150Ter",
        "hgvsWellDefined": "NP_001373067.1:p.Ser150_Ser263delinsGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829069754",
      "coordinates": [
        {
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      "gene": "http://reg.genome.network/gene/GN006990",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001373068.1:p.Ser150Ter",
        "hgvsWellDefined": "NP_001373068.1:p.Ser150_Ser263delinsGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA232892",
      "coordinates": [
        {
          "allele": "G",
          "end": 1330,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
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      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.1118C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Ser373Ter",
        "hgvsWellDefined": "NP_004983.1:p.Ser373_Ser486delinsGluSerProLysAlaProValProLeuLeuProProLeuProProProProProGluProGluSerSerGluAspProThrSerProProGluProGlnAspLeuSerSerSerValCysLysGluGluLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.1118C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.1118C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Ser373Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Ser373Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}