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        "hgvsWellDefined": "NP_001027392.1:p.Glu470_Ser594delinsGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645402137",
      "coordinates": [
        {
          "allele": "T",
          "end": 1605,
          "referenceAllele": "G",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.3:c.1408G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003156.1:p.Glu470Ter",
        "hgvsWellDefined": "NP_003156.1:p.Glu470_Glu603delinsGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825360249",
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "G",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001032221.6:c.1408G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027392.1:p.Glu470Ter",
        "hgvsWellDefined": "NP_001027392.1:p.Glu470_Ser594delinsGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373299.5:c.1408G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001032221.6:c.1408G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362396.2:p.Glu470Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001027392.1:p.Glu470Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828497114",
      "coordinates": [
        {
          "allele": "T",
          "end": 1526,
          "referenceAllele": "G",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374306.2:c.1399G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361235.1:p.Glu467Ter",
        "hgvsWellDefined": "NP_001361235.1:p.Glu467_Ser591delinsGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828497682",
      "coordinates": [
        {
          "allele": "T",
          "end": 1630,
          "referenceAllele": "G",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374307.2:c.1366G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361236.1:p.Glu456Ter",
        "hgvsWellDefined": "NP_001361236.1:p.Glu456_Glu589delinsGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828498263",
      "coordinates": [
        {
          "allele": "T",
          "end": 1725,
          "referenceAllele": "G",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374308.2:c.1366G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361237.1:p.Glu456Ter",
        "hgvsWellDefined": "NP_001361237.1:p.Glu456_Glu589delinsGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828498842",
      "coordinates": [
        {
          "allele": "T",
          "end": 1507,
          "referenceAllele": "G",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374309.2:c.1366G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361238.1:p.Glu456Ter",
        "hgvsWellDefined": "NP_001361238.1:p.Glu456_Ser580delinsGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693216"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828499410",
      "coordinates": [
        {
          "allele": "T",
          "end": 1725,
          "referenceAllele": "G",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374310.2:c.1366G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361239.1:p.Glu456Ter",
        "hgvsWellDefined": "NP_001361239.1:p.Glu456_Ser580delinsGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828499980",
      "coordinates": [
        {
          "allele": "T",
          "end": 1630,
          "referenceAllele": "G",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374311.2:c.1366G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361240.1:p.Glu456Ter",
        "hgvsWellDefined": "NP_001361240.1:p.Glu456_Ser580delinsGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828500523",
      "coordinates": [
        {
          "allele": "T",
          "end": 1637,
          "referenceAllele": "G",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374312.2:c.1366G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361241.1:p.Glu456Ter",
        "hgvsWellDefined": "NP_001361241.1:p.Glu456_Ser580delinsGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828501112",
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "G",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374313.2:c.1408G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361242.1:p.Glu470Ter",
        "hgvsWellDefined": "NP_001361242.1:p.Glu470_Arg577delinsGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlyGluTrpProPheArgThrLeuAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828501687",
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "G",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374314.1:c.1408G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361243.1:p.Glu470Ter",
        "hgvsWellDefined": "NP_001361243.1:p.Glu470_Ser574delinsGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleValProValGluAlaGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828502224",
      "coordinates": [
        {
          "allele": "T",
          "end": 1427,
          "referenceAllele": "G",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374315.2:c.1300G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361244.1:p.Glu434Ter",
        "hgvsWellDefined": "NP_001361244.1:p.Glu434_Glu567delinsGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645402137",
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "G",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.6:c.1408G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003156.1:p.Glu470Ter",
        "hgvsWellDefined": "NP_003156.1:p.Glu470_Glu603delinsGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373302.8:c.1408G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003165.6:c.1408G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362399.3:p.Glu470Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003156.1:p.Glu470Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}