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      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001032221.6:c.1565G>A"
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      "proteinEffect": {
        "hgvs": "NP_001027392.1:p.Trp522Ter",
        "hgvsWellDefined": "NP_001027392.1:p.Trp522_Ser594delinsHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373299.5:c.1565G>A"
          },
          "RefSeq": {
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        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362396.2:p.Trp522Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001027392.1:p.Trp522Ter"
          }
        }
      }
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      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "G",
          "start": 1682
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      ],
      "gene": "http://reg.genome.network/gene/GN011444",
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      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374306.2:c.1556G>A"
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        "hgvsWellDefined": "NP_001361235.1:p.Trp519_Ser591delinsHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828497727",
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN011444",
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      "geneSymbol": "STXBP1",
      "hgvs": [
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        "hgvs": "NP_001361236.1:p.Trp508Ter",
        "hgvsWellDefined": "NP_001361236.1:p.Trp508_Glu589delinsHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828498308",
      "coordinates": [
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          "allele": "A",
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          "referenceAllele": "G",
          "start": 1881
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      ],
      "gene": "http://reg.genome.network/gene/GN011444",
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        "hgvsWellDefined": "NP_001361237.1:p.Trp508_Glu589delinsHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693215"
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    {
      "@id": "http://reg.genome.network/allele/PA2828498889",
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "G",
          "start": 1663
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      ],
      "gene": "http://reg.genome.network/gene/GN011444",
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      "hgvs": [
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        "hgvsWellDefined": "NP_001361238.1:p.Trp508_Ser580delinsHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693216"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828499457",
      "coordinates": [
        {
          "allele": "A",
          "end": 1882,
          "referenceAllele": "G",
          "start": 1881
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      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001361239.1:p.Trp508Ter",
        "hgvsWellDefined": "NP_001361239.1:p.Trp508_Ser580delinsHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828500025",
      "coordinates": [
        {
          "allele": "A",
          "end": 1787,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001361240.1:p.Trp508_Ser580delinsHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828500570",
      "coordinates": [
        {
          "allele": "A",
          "end": 1794,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374312.2:c.1523G>A"
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      "proteinEffect": {
        "hgvs": "NP_001361241.1:p.Trp508Ter",
        "hgvsWellDefined": "NP_001361241.1:p.Trp508_Ser580delinsHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828501157",
      "coordinates": [
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          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001361242.1:p.Trp522Ter",
        "hgvsWellDefined": "NP_001361242.1:p.Trp522_Arg577delinsHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlyGluTrpProPheArgThrLeuAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828501734",
      "coordinates": [
        {
          "allele": "A",
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      ],
      "gene": "http://reg.genome.network/gene/GN011444",
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      "geneSymbol": "STXBP1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001361243.1:p.Trp522_Ser574delinsHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleValProValGluAlaGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828502268",
      "coordinates": [
        {
          "allele": "A",
          "end": 1584,
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      ],
      "gene": "http://reg.genome.network/gene/GN011444",
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      "geneSymbol": "STXBP1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001361244.1:p.Trp486Ter",
        "hgvsWellDefined": "NP_001361244.1:p.Trp486_Glu567delinsHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645402155",
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN011444",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_003156.1:p.Trp522Ter",
        "hgvsWellDefined": "NP_003156.1:p.Trp522_Glu603delinsHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
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            "hgvs": "ENST00000373302.8:c.1565G>A"
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          "RefSeq": {
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        "protein": {
          "Ensembl": {
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          "RefSeq": {
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        }
      }
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  ],
  "type": "nucleotide"
}