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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001303266.1:p.Glu323_Ser393delinsLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828325745",
      "coordinates": [
        {
          "allele": "T",
          "end": 1921,
          "referenceAllele": "G",
          "start": 1920
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369391.2:c.967G>T"
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      "proteinEffect": {
        "hgvs": "NP_001356320.1:p.Glu323Ter",
        "hgvsWellDefined": "NP_001356320.1:p.Glu323_Ser393delinsLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828326610",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
          "start": 1569
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
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      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369392.2:c.967G>T"
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      "proteinEffect": {
        "hgvs": "NP_001356321.1:p.Glu323Ter",
        "hgvsWellDefined": "NP_001356321.1:p.Glu323_Ser393delinsLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828327477",
      "coordinates": [
        {
          "allele": "T",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369393.2:c.967G>T"
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      "proteinEffect": {
        "hgvs": "NP_001356322.1:p.Glu323Ter",
        "hgvsWellDefined": "NP_001356322.1:p.Glu323_Ser393delinsLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828327916",
      "coordinates": [
        {
          "allele": "T",
          "end": 1377,
          "referenceAllele": "G",
          "start": 1376
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.1:c.967G>T"
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      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Glu323Ter",
        "hgvsWellDefined": "NP_001356323.1:p.Glu323_Ser393delinsLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828327916",
      "coordinates": [
        {
          "allele": "T",
          "end": 1377,
          "referenceAllele": "G",
          "start": 1376
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
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      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.2:c.967G>T"
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      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Glu323Ter",
        "hgvsWellDefined": "NP_001356323.1:p.Glu323_Ser393delinsLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721143"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829068864",
      "coordinates": [
        {
          "allele": "T",
          "end": 1461,
          "referenceAllele": "G",
          "start": 1460
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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.Glu193Ter",
        "hgvsWellDefined": "NP_001373066.1:p.Glu193_Ser263delinsLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829069450",
      "coordinates": [
        {
          "allele": "T",
          "end": 1349,
          "referenceAllele": "G",
          "start": 1348
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386138.1:c.577G>T"
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      "proteinEffect": {
        "hgvs": "NP_001373067.1:p.Glu193Ter",
        "hgvsWellDefined": "NP_001373067.1:p.Glu193_Ser263delinsLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829069911",
      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "referenceAllele": "G",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386139.1:c.577G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373068.1:p.Glu193Ter",
        "hgvsWellDefined": "NP_001373068.1:p.Glu193_Ser263delinsLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829565708",
      "coordinates": [
        {
          "allele": "T",
          "end": 1458,
          "referenceAllele": "G",
          "start": 1457
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      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.1246G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Glu416Ter",
        "hgvsWellDefined": "NP_004983.1:p.Glu416_Ser486delinsLysMetProArgGlyGlySerLeuGluSerAspGlyCysProLysGluProAlaLysThrGlnProAlaValAlaThrAlaAlaThrAlaAlaGluLysTyrLysHisArgGlyGluGlyGluArgLysAspIleValSerSerSerMetProArgProAsnArgGluGluProValAspSerArgThrProValThrGluArgValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.1246G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.1246G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Glu416Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Glu416Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}