{
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  "@id": "http://reg.genome.network/allele/CA10582613",
  "communityStandardTitle": [
    "NM_001032221.6(STXBP1):c.798T>G (p.Tyr266Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=240447[alleleid]",
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        "preferredName": "NM_001032221.6(STXBP1):c.798T>G (p.Tyr266Ter)"
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/239512",
        "RCV": [
          "RCV000232712"
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        "variationId": 239512
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      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130430362T>G?assembly=hg19",
        "id": "chr9:g.130430362T>G"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr9:g.127668083T>G?assembly=hg38",
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751170778",
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    ]
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      "referenceGenome": "GRCh37",
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      "chromosome": "9",
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      "referenceSequence": "http://reg.genome.network/refseq/RS912400"
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      "referenceSequence": "http://reg.genome.network/refseq/RS751203",
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      "referenceSequence": "http://reg.genome.network/refseq/RS762476"
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      "referenceSequence": "http://reg.genome.network/refseq/RS762760"
    },
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      "coordinates": [
        {
          "allele": "G",
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      "referenceSequence": "http://reg.genome.network/refseq/RS763509"
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        "hgvsWellDefined": "ENSP00000489791.1:p.Tyr252_Glu589delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 980,
          "referenceAllele": "T",
          "start": 979
        }
      ],
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      "geneNCBI_id": 6812,
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      "hgvs": [
        "ENST00000637953.1:c.798T>G"
      ],
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        "hgvsWellDefined": "ENSP00000490613.1:p.Tyr266_Arg577delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlyGluTrpProPheArgThrLeuAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 740,
          "referenceAllele": "T",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000647107.1:c.740T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "T",
          "start": 1031
        }
      ],
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      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000650920.1:c.756T>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000498834.1:p.Tyr252_Glu589delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 919,
          "referenceAllele": "T",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000373299.4:c.798T>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000362396.1:p.Tyr266_Ser594delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269616"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 995,
          "referenceAllele": "T",
          "start": 994
        }
      ],
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      "geneNCBI_id": 6812,
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      "hgvs": [
        "ENST00000373302.7:c.798T>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000362399.3:p.Tyr266_Glu603delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 634,
          "referenceAllele": "T",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "ENST00000626416.2:n.634T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825359854",
      "coordinates": [
        {
          "allele": "G",
          "end": 995,
          "referenceAllele": "T",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001032221.3:c.798T>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001027392.1:p.Tyr266_Ser594delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645401895",
      "coordinates": [
        {
          "allele": "G",
          "end": 995,
          "referenceAllele": "T",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.3:c.798T>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_003156.1:p.Tyr266_Glu603delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825359854",
      "coordinates": [
        {
          "allele": "G",
          "end": 925,
          "referenceAllele": "T",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001027392.1:p.Tyr266_Ser594delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675754",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373299.5:c.798T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001032221.6:c.798T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362396.2:p.Tyr266Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001027392.1:p.Tyr266Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828496913",
      "coordinates": [
        {
          "allele": "G",
          "end": 916,
          "referenceAllele": "T",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374306.2:c.789T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361235.1:p.Tyr263Ter",
        "hgvsWellDefined": "NP_001361235.1:p.Tyr263_Ser591delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828497482",
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "T",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374307.2:c.756T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361236.1:p.Tyr252Ter",
        "hgvsWellDefined": "NP_001361236.1:p.Tyr252_Glu589delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828498062",
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "referenceAllele": "T",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374308.2:c.756T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361237.1:p.Tyr252Ter",
        "hgvsWellDefined": "NP_001361237.1:p.Tyr252_Glu589delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828498644",
      "coordinates": [
        {
          "allele": "G",
          "end": 897,
          "referenceAllele": "T",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374309.2:c.756T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361238.1:p.Tyr252Ter",
        "hgvsWellDefined": "NP_001361238.1:p.Tyr252_Ser580delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693216"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828499211",
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "referenceAllele": "T",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374310.2:c.756T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361239.1:p.Tyr252Ter",
        "hgvsWellDefined": "NP_001361239.1:p.Tyr252_Ser580delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828499779",
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "T",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374311.2:c.756T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361240.1:p.Tyr252Ter",
        "hgvsWellDefined": "NP_001361240.1:p.Tyr252_Ser580delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828500323",
      "coordinates": [
        {
          "allele": "G",
          "end": 1027,
          "referenceAllele": "T",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374312.2:c.756T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361241.1:p.Tyr252Ter",
        "hgvsWellDefined": "NP_001361241.1:p.Tyr252_Ser580delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProGlnLysLeuLeuAspThrLeuLysLysLeuAsnLysThrAspGluGluIleSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828500910",
      "coordinates": [
        {
          "allele": "G",
          "end": 925,
          "referenceAllele": "T",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374313.2:c.798T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361242.1:p.Tyr266Ter",
        "hgvsWellDefined": "NP_001361242.1:p.Tyr266_Arg577delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlyGluTrpProPheArgThrLeuAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828501487",
      "coordinates": [
        {
          "allele": "G",
          "end": 925,
          "referenceAllele": "T",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374314.1:c.798T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361243.1:p.Tyr266Ter",
        "hgvsWellDefined": "NP_001361243.1:p.Tyr266_Ser574delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleValProValGluAlaGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693221"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 921,
          "endIntronDirection": "+",
          "endIntronOffset": 1787,
          "referenceAllele": "T",
          "start": 921,
          "startIntronDirection": "+",
          "startIntronOffset": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374315.2:c.794+1787T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361244.1:n.794+1787T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645401895",
      "coordinates": [
        {
          "allele": "G",
          "end": 925,
          "referenceAllele": "T",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.6:c.798T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003156.1:p.Tyr266Ter",
        "hgvsWellDefined": "NP_003156.1:p.Tyr266_Glu603delinsGluThrSerGlyIleGlyGluAlaArgValLysGluValLeuLeuAspGluAspAspAspLeuTrpIleAlaLeuArgHisLysHisIleAlaGluValSerGlnGluValThrArgSerLeuLysAspPheSerSerSerLysArgMetAsnThrGlyGluLysThrThrMetArgAspLeuSerGlnMetLeuLysLysMetProGlnTyrGlnLysGluLeuSerLysTyrSerThrHisLeuHisLeuAlaGluAspCysMetLysHisTyrGlnGlyThrValAspLysLeuCysArgValGluGlnAspLeuAlaMetGlyThrAspAlaGluGlyGluLysIleLysAspProMetArgAlaIleValProIleLeuLeuAspAlaAsnValSerThrTyrAspLysIleArgIleIleLeuLeuTyrIlePheLeuLysAsnGlyIleThrGluGluAsnLeuAsnLysLeuIleGlnHisAlaGlnIleProProGluAspSerGluIleIleThrAsnMetAlaHisLeuGlyValProIleValThrAspSerThrLeuArgArgArgSerLysProGluArgLysGluArgIleSerGluGlnThrTyrGlnLeuSerArgTrpThrProIleIleLysAspIleMetGluAspThrIleGluAspLysLeuAspThrLysHisTyrProTyrIleSerThrArgSerSerAlaSerPheSerThrThrAlaValSerAlaArgTyrGlyHisTrpHisLysAsnLysAlaProGlyGluTyrArgSerGlyProArgLeuIleIlePheIleLeuGlyGlyValSerLeuAsnGluMetArgCysAlaTyrGluValThrGlnAlaAsnGlyLysTrpGluValLeuIleGlySerThrHisIleLeuThrProThrLysPheLeuMetAspLeuArgHisProAspPheArgGluSerSerArgValSerPheGluAspGlnAlaProThrMetGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373302.8:c.798T>G"
          },
          "RefSeq": {
            "hgvs": "NM_003165.6:c.798T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362399.3:p.Tyr266Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003156.1:p.Tyr266Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}