{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA203284",
  "communityStandardTitle": [
    "NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195318[alleleid]",
        "alleleId": 195318,
        "preferredName": "NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198157",
        "RCV": [
          "RCV000179420",
          "RCV000189595",
          "RCV000626842",
          "RCV001260782",
          "RCV001380262",
          "RCV001265297"
        ],
        "variationId": 198157
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130423419C>T?assembly=hg19",
        "id": "chr9:g.130423419C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127661140C>T?assembly=hg38",
        "id": "chr9:g.127661140C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794727792",
        "rs": 794727792
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 127661140,
          "referenceAllele": "C",
          "start": 127661139
        }
      ],
      "hgvs": [
        "NC_000009.12:g.127661140C>T",
        "CM000671.2:g.127661140C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 130423419,
          "referenceAllele": "C",
          "start": 130423418
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      ],
      "hgvs": [
        "NC_000009.11:g.130423419C>T",
        "CM000671.1:g.130423419C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 129463240,
          "referenceAllele": "C",
          "start": 129463239
        }
      ],
      "hgvs": [
        "NC_000009.10:g.129463240C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53934,
          "referenceAllele": "C",
          "start": 53933
        }
      ],
      "hgvs": [
        "NG_016623.1:g.53934C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003236"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
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          "start": 563
        }
      ],
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      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
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        "ENST00000704680.1:c.322C>T"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 363
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      ],
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      "hgvs": [
        "ENST00000704681.1:c.364C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000515992.1:p.Arg122_Thr404delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnAlaSerArgArgLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "C",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
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      "hgvs": [
        "ENST00000373299.5:c.364C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000362396.2:p.Arg122_Ser594delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751202",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373299.5:c.364C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001032221.6:c.364C>T"
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        },
        "protein": {
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            "hgvs": "ENSP00000362396.2:p.Arg122Ter"
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          "RefSeq": {
            "hgvs": "NP_001027392.1:p.Arg122Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "C",
          "start": 490
        }
      ],
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362399.3:p.Arg122Ter",
        "hgvsWellDefined": "ENSP00000362399.3:p.Arg122_Glu603delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
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            "hgvs": "ENST00000373302.8:c.364C>T"
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          "RefSeq": {
            "hgvs": "NM_003165.6:c.364C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362399.3:p.Arg122Ter"
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          "RefSeq": {
            "hgvs": "NP_003156.1:p.Arg122Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
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      "geneSymbol": "STXBP1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000487211.2:p.Arg108_Ser580delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000635950.2:c.364C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000490903.1:p.Arg122Ter",
        "hgvsWellDefined": "ENSP00000490903.1:p.Arg122_Ser574delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleValProValGluAlaGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
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      "geneNCBI_id": 6812,
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      "hgvs": [
        "ENST00000636509.2:c.322C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490810.1:p.Arg108Ter",
        "hgvsWellDefined": "ENSP00000490810.1:p.Arg108_Lys360delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAsnHisArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000636962.2:c.364C>T"
      ],
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        "NM_001032221.3:c.364C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027392.1:p.Arg122Ter",
        "hgvsWellDefined": "NP_001027392.1:p.Arg122_Ser594delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA203285",
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.3:c.364C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003156.1:p.Arg122Ter",
        "hgvsWellDefined": "NP_003156.1:p.Arg122_Glu603delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825359566",
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "C",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001032221.6:c.364C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027392.1:p.Arg122Ter",
        "hgvsWellDefined": "NP_001027392.1:p.Arg122_Ser594delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373299.5:c.364C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001032221.6:c.364C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362396.2:p.Arg122Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001027392.1:p.Arg122Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828496770",
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "referenceAllele": "C",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374306.2:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361235.1:p.Arg119Ter",
        "hgvsWellDefined": "NP_001361235.1:p.Arg119_Ser591delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828497339",
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374307.2:c.322C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361236.1:p.Arg108Ter",
        "hgvsWellDefined": "NP_001361236.1:p.Arg108_Glu589delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828497922",
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374308.2:c.322C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361237.1:p.Arg108Ter",
        "hgvsWellDefined": "NP_001361237.1:p.Arg108_Glu589delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828498501",
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374309.2:c.322C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361238.1:p.Arg108Ter",
        "hgvsWellDefined": "NP_001361238.1:p.Arg108_Ser580delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693216"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828499069",
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374310.2:c.322C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361239.1:p.Arg108Ter",
        "hgvsWellDefined": "NP_001361239.1:p.Arg108_Ser580delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828499637",
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374311.2:c.322C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361240.1:p.Arg108Ter",
        "hgvsWellDefined": "NP_001361240.1:p.Arg108_Ser580delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828500181",
      "coordinates": [
        {
          "allele": "T",
          "end": 593,
          "referenceAllele": "C",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374312.2:c.322C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361241.1:p.Arg108Ter",
        "hgvsWellDefined": "NP_001361241.1:p.Arg108_Ser580delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828500771",
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "C",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374313.2:c.364C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361242.1:p.Arg122Ter",
        "hgvsWellDefined": "NP_001361242.1:p.Arg122_Arg577delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlyGluTrpProPheArgThrLeuAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828501346",
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "C",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374314.1:c.364C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361243.1:p.Arg122Ter",
        "hgvsWellDefined": "NP_001361243.1:p.Arg122_Ser574delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleValProValGluAlaGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828501924",
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "C",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374315.2:c.364C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361244.1:p.Arg122Ter",
        "hgvsWellDefined": "NP_001361244.1:p.Arg122_Glu567delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA203285",
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "C",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.6:c.364C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003156.1:p.Arg122Ter",
        "hgvsWellDefined": "NP_003156.1:p.Arg122_Glu603delinsAlaAlaLysValIleLysThrLeuThrGluIleAsnIleAlaPheLeuProTyrGluSerGlnValTyrSerLeuAspSerAlaAspSerPheGlnSerPheTyrSerProHisLysAlaGlnMetLysAsnProIleLeuGluArgLeuAlaGluGlnIleAlaThrLeuCysAlaThrLeuLysGluTyrProAlaValArgTyrArgGlyGluTyrLysAspAsnAlaLeuLeuAlaGlnLeuIleGlnAspLysLeuAspAlaTyrLysAlaAspAspProThrMetGlyGluGlyProAspLysAlaArgSerGlnLeuLeuIleLeuAspArgGlyPheAspProSerSerProValLeuHisGluLeuThrPheGlnAlaMetSerTyrAspLeuLeuProIleGluAsnAspValTyrLysTyrGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373302.8:c.364C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003165.6:c.364C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362399.3:p.Arg122Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003156.1:p.Arg122Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}