{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA006117",
  "communityStandardTitle": [
    "NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75695[alleleid]",
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        "preferredName": "NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/64766",
        "RCV": [
          "RCV000054949",
          "RCV001389750"
        ],
        "variationId": 64766
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135779055C>A?assembly=hg19",
        "id": "chr9:g.135779055C>A"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132903668C>A?assembly=hg38",
        "id": "chr9:g.132903668C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514820",
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      }
    ]
  },
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      "chromosome": "9",
      "coordinates": [
        {
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "9",
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        {
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      ],
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
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          "start": 45965
        }
      ],
      "hgvs": [
        "NG_012386.1:g.45966G>T",
        "LRG_486:g.45966G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS002390"
    }
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    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914163"
    },
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000494743.2:p.Glu731_Ser738delinsHisAsnAlaAlaMetIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914401"
    },
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      "coordinates": [
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS914407"
    },
    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS914408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2237,
          "endIntronDirection": "+",
          "endIntronOffset": 743,
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          "startIntronDirection": "+",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS914410"
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      "referenceSequence": "http://reg.genome.network/refseq/RS914417"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914420"
    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS067177"
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      "coordinates": [
        {
          "allele": "T",
          "end": 2405,
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          "start": 2404
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      "referenceSequence": "http://reg.genome.network/refseq/RS072084"
    },
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        {
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          "end": 2520,
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      "referenceSequence": "http://reg.genome.network/refseq/RS086153"
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        {
          "allele": "T",
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          "start": 2320
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      "referenceSequence": "http://reg.genome.network/refseq/RS523007"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545159"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567917"
    },
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        {
          "allele": "T",
          "end": 2855,
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      "referenceSequence": "http://reg.genome.network/refseq/RS567918"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS567919"
    },
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      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2561,
          "referenceAllele": "G",
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        }
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567921"
    },
    {
      "@id": "http://reg.genome.network/allele/PA264295",
      "coordinates": [
        {
          "allele": "T",
          "end": 2408,
          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
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      "hgvs": [
        "NM_000368.5:c.2191G>T"
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      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Glu731Ter",
        "hgvsWellDefined": "NP_000359.1:p.Glu731_Ser1164delinsHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674813",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.2191G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.2191G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Glu731Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Glu731Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825918554",
      "coordinates": [
        {
          "allele": "T",
          "end": 2405,
          "referenceAllele": "G",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.2:c.2188G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Glu730Ter",
        "hgvsWellDefined": "NP_001155898.1:p.Glu730_Ser1163delinsHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825956967",
      "coordinates": [
        {
          "allele": "T",
          "end": 2255,
          "referenceAllele": "G",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.2:c.2038G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Glu680Ter",
        "hgvsWellDefined": "NP_001155899.1:p.Glu680_Ser1113delinsHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828060459",
      "coordinates": [
        {
          "allele": "T",
          "end": 2304,
          "referenceAllele": "G",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.2:c.1828G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Glu610Ter",
        "hgvsWellDefined": "NP_001349106.1:p.Glu610_Ser1043delinsHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690502"
    }
  ],
  "type": "nucleotide"
}