{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377888750",
  "communityStandardTitle": [
    "NM_016169.4(SUFU):c.256G>T (p.Glu86Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3101737[alleleid]",
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        "preferredName": "NM_016169.4(SUFU):c.256G>T (p.Glu86Ter)"
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2945856",
        "RCV": [
          "RCV003803950"
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        "variationId": 2945856
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.104268999G>T?assembly=hg19",
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr10:g.102509242G>T?assembly=hg38",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/770989077",
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      "referenceSequence": "http://reg.genome.network/refseq/RS287820"
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    {
      "@id": "http://reg.genome.network/allele/PA2826140810",
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      "referenceSequence": "http://reg.genome.network/refseq/RS015890"
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      "referenceSequence": "http://reg.genome.network/refseq/RS034493"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106809"
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      ],
      "proteinEffect": {
        "hgvs": "XP_016871812.1:p.Glu60Ter",
        "hgvsWellDefined": "XP_016871812.1:p.Glu60_His501delinsHisTrpHisTyrIleSerPheGlyLeuSerAspLeuTyrGlyAspAsnArgValHisGluPheThrGlyThrAspGlyProSerGlyPheGlyPheGluLeuThrPheArgLeuLysArgGluThrGlyGluSerAlaProProThrTrpProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnArgProProSerCysGluLeuProSerArgProValCysSerProSerCysValHisSerPheLeuValIleSerGlnArgGlyAsnPheCysSerTrpGlnLeuThrIleProArgGlyAsnLeuIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826140810",
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "referenceAllele": "G",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_001178133.2:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171604.1:p.Glu86Ter",
        "hgvsWellDefined": "NP_001171604.1:p.Glu86_Leu433delinsHisTrpHisTyrIleSerPheGlyLeuSerAspLeuTyrGlyAspAsnArgValHisGluPheThrGlyThrAspGlyProSerGlyPheGlyPheGluLeuThrPheArgLeuLysArgGluThrGlyGluSerAlaProProThrTrpProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741958043",
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "referenceAllele": "G",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NM_016169.4:c.256G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057253.2:p.Glu86Ter",
        "hgvsWellDefined": "NP_057253.2:p.Glu86_His484delinsHisTrpHisTyrIleSerPheGlyLeuSerAspLeuTyrGlyAspAsnArgValHisGluPheThrGlyThrAspGlyProSerGlyPheGlyPheGluLeuThrPheArgLeuLysArgGluThrGlyGluSerAlaProProThrTrpProAlaGluLeuMetGlnGlyLeuAlaArgTyrValPheGlnSerGluAsnThrPheCysSerGlyAspHisValSerTrpHisSerProLeuAspAsnSerGluSerArgIleGlnHisMetLeuLeuThrGluAspProGlnMetGlnProValGlnThrProPheGlyValValThrPheLeuGlnIleValGlyValCysThrGluGluLeuHisSerAlaGlnGlnTrpAsnGlyGlnGlyIleLeuGluLeuLeuArgThrValProIleAlaGlyGlyProTrpLeuIleThrAspMetArgArgGlyGluThrIlePheGluIleAspProHisLeuGlnGluArgValAspLysGlyIleGluThrAspGlySerAsnLeuSerGlyValSerAlaLysCysAlaTrpAspAspLeuSerArgProProGluAspAspGluAspSerArgSerIleCysIleGlyThrGlnProArgArgLeuSerGlyLysAspThrGluGlnIleArgGluThrLeuArgArgGlyLeuGluIleAsnSerLysProValLeuProProIleAsnProGlnArgGlnAsnGlyLeuAlaHisAspArgAlaProSerArgLysAspSerLeuGluSerAspSerSerThrAlaIleIleProHisGluLeuIleArgThrArgGlnLeuGluSerValHisLeuLysPheAsnGlnGluSerGlyAlaLeuIleProLeuCysLeuArgGlyArgLeuLeuHisGlyArgHisPheThrTyrLysSerIleThrGlyAspMetAlaIleThrPheValSerThrGlyValGluGlyAlaPheAlaThrGluGluHisProTyrAlaAlaHisGlyProTrpLeuGlnIleLeuLeuThrGluGluPheValGluLysMetLeuGluAspLeuGluAspLeuThrSerProGluGluPheLysLeuProLysGluTyrSerTrpProGluLysLysLeuLysValSerIleLeuProAspValValPheAspSerProLeuHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369902.8:c.256G>T"
          },
          "RefSeq": {
            "hgvs": "NM_016169.4:c.256G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358918.4:p.Glu86Ter"
          },
          "RefSeq": {
            "hgvs": "NP_057253.2:p.Glu86Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}