{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA347762",
  "communityStandardTitle": [
    "NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6224135",
        "active": true,
        "id": "COSM6224135"
      }
    ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=170942[alleleid]",
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        "preferredName": "NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/161096",
        "RCV": [
          "RCV000202510",
          "RCV000248625"
        ],
        "variationId": 161096
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-45354360-C-T",
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        "variant": "20:45354360 C / T"
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.45354360C>T?assembly=hg19",
        "id": "chr20:g.45354360C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.46725721C>T?assembly=hg38",
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      {
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    ],
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        "@id": "http://gnomad.broadinstitute.org/variant/20-46725721-C-T?dataset=gnomad_r4",
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      "referenceGenome": "GRCh38",
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    {
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      "coordinates": [
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "20",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264736"
    },
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      "@id": "http://reg.genome.network/allele/PA347763",
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      "referenceSequence": "http://reg.genome.network/refseq/RS038413"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS096130"
    },
    {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096131"
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    },
    {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096135"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS131777"
    },
    {
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011527362.1:p.Arg250_Ser562delinsGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlyThrIleGlyLeuSerTrpThrPheLeuLeuTyrGlyLeuThrAlaValLeuGlyLeuGlyPheIleTyrLeuPheValProGluThrLysGlyGlnSerLeuAlaGluIleAspGlnGlnPheGlnLysArgArgPheThrLeuSerPheGlyHisArgGlnAsnSerThrGlyIleProTyrSerArgIleGluIleSerAlaAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2422,
          "referenceAllele": "C",
          "start": 2421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529061.2:c.694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527363.1:p.Arg232Ter",
        "hgvsWellDefined": "XP_011527363.1:p.Arg232_Ser544delinsGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlyThrIleGlyLeuSerTrpThrPheLeuLeuTyrGlyLeuThrAlaValLeuGlyLeuGlyPheIleTyrLeuPheValProGluThrLysGlyGlnSerLeuAlaGluIleAspGlnGlnPheGlnLysArgArgPheThrLeuSerPheGlyHisArgGlnAsnSerThrGlyIleProTyrSerArgIleGluIleSerAlaAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529062.2:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527364.1:p.Arg250Ter",
        "hgvsWellDefined": "XP_011527364.1:p.Arg250_Ser533delinsGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProGlyProArgSerHisHisSerProGlyAlaLeuLeuLeuSerHisProSerAspLeuAlaCysProGlnArgAspLeuProCysGlyAspThrArgLysSerLeuArgLeuLeuGlnGlnLeuGlnLeuGlyGlyGlnProLeuHisGlnProLeuLeuProArgSerHisTrpPheThrLeuSerPheGlyHisArgGlnAsnSerThrGlyIleProTyrSerArgIleGluIleSerAlaAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529063.2:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527365.1:p.Arg250Ter",
        "hgvsWellDefined": "XP_011527365.1:p.Arg250_Ala532delinsGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleAspGlyLysIleHisProTyrProValGlnProGlySerGlnLysThrArgThrSerProThrAlaPheGlnProIleAlaLeuProAlaGlyAspArgSerSerTrpSerTrpGluAlaAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 877,
          "referenceAllele": "C",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529064.2:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527366.1:p.Arg250Ter",
        "hgvsWellDefined": "XP_011527366.1:p.Arg250_His507delinsGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProGlyProArgSerHisHisSerProGlyAlaLeuLeuLeuSerHisProSerAspLeuAlaCysProGlnArgAspLeuProCysGlyAspThrArgLysSerLeuArgLeuLeuGlnGlnLeuGlnLeuGlyGlyGlnProLeuHisGlnProLeuLeuProArgSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549359"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 872,
          "referenceAllele": "C",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_011529065.2:c.748C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527367.1:p.Arg250Ter",
        "hgvsWellDefined": "XP_011527367.1:p.Arg250_Pro494delinsGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlySerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XM_017028087.2:c.685C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883576.1:p.Arg229Ter",
        "hgvsWellDefined": "XP_016883576.1:p.Arg229_Pro473delinsGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlySerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 871,
          "referenceAllele": "C",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "XR_936641.2:n.871C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA347763",
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "referenceAllele": "C",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013444",
      "geneNCBI_id": 81031,
      "geneSymbol": "SLC2A10",
      "hgvs": [
        "NM_030777.4:c.685C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_110404.1:p.Arg229Ter",
        "hgvsWellDefined": "NP_110404.1:p.Arg229_Ser541delinsGlyArgThrThrValGlyLeuGlyLeuValLeuPheGlnGlnLeuThrGlyGlnProAsnValLeuCysTyrAlaSerThrIlePheSerSerValGlyPheHisGlyGlySerSerAlaValLeuAlaSerValGlyLeuGlyAlaValLysValAlaAlaThrLeuThrAlaMetGlyLeuValAspArgAlaGlyArgArgAlaLeuLeuLeuAlaGlyCysAlaLeuMetAlaLeuSerValSerGlyIleGlyLeuValSerPheAlaValProMetAspSerGlyProSerCysLeuAlaValProAsnAlaThrGlyGlnThrGlyLeuProGlyAspSerGlyLeuLeuGlnAspSerSerLeuProProIleProArgThrAsnGluAspGlnArgGluProIleLeuSerThrAlaLysLysThrLysProHisProArgSerGlyAspProSerAlaProProArgLeuAlaLeuSerSerAlaLeuProGlyProProLeuProAlaArgGlyHisAlaLeuLeuArgTrpThrAlaLeuLeuCysLeuMetValPheValSerAlaPheSerPheGlyPheGlyProValThrTrpLeuValLeuSerGluIleTyrProValGluIleArgGlyArgAlaPheAlaPheCysAsnSerPheAsnTrpAlaAlaAsnLeuPheIleSerLeuSerPheLeuAspLeuIleGlyThrIleGlyLeuSerTrpThrPheLeuLeuTyrGlyLeuThrAlaValLeuGlyLeuGlyPheIleTyrLeuPheValProGluThrLysGlyGlnSerLeuAlaGluIleAspGlnGlnPheGlnLysArgArgPheThrLeuSerPheGlyHisArgGlnAsnSerThrGlyIleProTyrSerArgIleGluIleSerAlaAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671005",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359271.4:c.685C>T"
          },
          "RefSeq": {
            "hgvs": "NM_030777.4:c.685C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352216.2:p.Arg229Ter"
          },
          "RefSeq": {
            "hgvs": "NP_110404.1:p.Arg229Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}