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  "communityStandardTitle": [
    "NM_000436.4(OXCT1):c.370C>T (p.Arg124Ter)"
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  "externalRecords": {
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4753616",
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        "id": "COSM4753616"
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      }
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/828111",
        "RCV": [
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        "variationId": 828111
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        "@id": "http://myvariant.info/v1/variant/chr5:g.41853565G>A?assembly=hg19",
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    ],
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        "@id": "http://myvariant.info/v1/variant/chr5:g.41853463G>A?assembly=hg38",
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1579884900",
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      "proteinEffect": {
        "hgvs": "NP_000427.1:p.Arg124Ter",
        "hgvsWellDefined": "NP_000427.1:p.Arg124_Asn520delinsGlnTyrLeuSerGlyGluLeuGluValGluLeuThrProGlnGlyThrLeuAlaGluArgIleArgAlaGlyGlyAlaGlyValProAlaPheTyrThrProThrGlyTyrGlyThrLeuValGlnGluGlyGlySerProIleLysTyrAsnLysAspGlySerValAlaIleAlaSerLysProArgGluValArgGluPheAsnGlyGlnHisPheIleLeuGluGluAlaIleThrGlyAspPheAlaLeuValLysAlaTrpLysAlaAspArgAlaGlyAsnValIlePheArgLysSerAlaArgAsnPheAsnLeuProMetCysLysAlaAlaGluThrThrValValGluValGluGluIleValAspIleGlyAlaPheAlaProGluAspIleHisIleProGlnIleTyrValHisArgLeuIleLysGlyGluLysTyrGluLysArgIleGluArgLeuSerIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662443",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000196371.10:c.370C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000436.4:c.370C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000196371.5:p.Arg124Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000427.1:p.Arg124Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828135918",
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NM_001364299.2:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351228.1:p.Arg124Ter",
        "hgvsWellDefined": "NP_001351228.1:p.Arg124_Asn527delinsGlnTyrLeuSerGlyGluLeuGluValGluLeuThrProGlnPhePheLeuArgLeuArgGluGlyThrLeuAlaGluArgIleArgAlaGlyGlyAlaGlyValProAlaPheTyrThrProThrGlyTyrGlyThrLeuValGlnGluGlyGlySerProIleLysTyrAsnLysAspGlySerValAlaIleAlaSerLysProArgGluValArgGluPheAsnGlyGlnHisPheIleLeuGluGluAlaIleThrGlyAspPheAlaLeuValLysAlaTrpLysAlaAspArgAlaGlyAsnValIlePheArgLysSerAlaArgAsnPheAsnLeuProMetCysLysAlaAlaGluThrThrValValGluValGluGluIleValAspIleGlyAlaPheAlaProGluAspIleHisIleProGlnIleTyrValHisArgLeuIleLysGlyGluLysTyrGluLysArgIleGluArgLeuSerIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044705",
      "coordinates": [
        {
          "allele": "T",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NM_001364300.2:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351229.1:p.Arg131Ter",
        "hgvsWellDefined": "NP_001351229.1:p.Arg131_Asn527delinsGlnTyrLeuSerGlyGluLeuGluValGluLeuThrProGlnGlyThrLeuAlaGluArgIleArgAlaGlyGlyAlaGlyValProAlaPheTyrThrProThrGlyTyrGlyThrLeuValGlnGluGlyGlySerProIleLysTyrAsnLysAspGlySerValAlaIleAlaSerLysProArgGluValArgGluPheAsnGlyGlnHisPheIleLeuGluGluAlaIleThrGlyAspPheAlaLeuValLysAlaTrpLysAlaAspArgAlaGlyAsnValIlePheArgLysSerAlaArgAsnPheAsnLeuProMetCysLysAlaAlaGluThrThrValValGluValGluGluIleValAspIleGlyAlaPheAlaProGluAspIleHisIleProGlnIleTyrValHisArgLeuIleLysGlyGluLysTyrGluLysArgIleGluArgLeuSerIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828136081",
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NM_001364301.2:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351230.1:p.Arg124Ter",
        "hgvsWellDefined": "NP_001351230.1:p.Arg124_Asn518delinsGlnTyrLeuSerGlyGluLeuGluValGluLeuThrProGlnGlyThrLeuAlaGluArgIleArgAlaGlyGlyAlaGlyValProAlaPheTyrThrProThrGlyTyrGlyThrLeuValGlnGluGlyGlySerProIleLysTyrAsnLysAspGlySerValAlaIleAlaSerLysProArgGluValArgGluPheAsnGlyGlnHisPheIleLeuGluGluAlaIleThrGlyAspPheAlaLeuValLysAlaTrpLysAlaAspArgAlaGlyAsnValIlePheArgLysSerAlaArgAsnPheAsnLeuProMetCysLysAlaAlaGluThrThrValValGluGluIleValAspIleGlyAlaPheAlaProGluAspIleHisIleProGlnIleTyrValHisArgLeuIleLysGlyGluLysTyrGluLysArgIleGluArgLeuSerIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828136185",
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NM_001364302.2:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351231.1:p.Arg124Ter",
        "hgvsWellDefined": "NP_001351231.1:p.Arg124_Asn490delinsGlnTyrLeuSerGlyGluLeuGluValGluLeuThrProGlnGlyThrLeuAlaGluArgIleArgAlaGlyGlyAlaGlyValProAlaPheTyrThrProThrGlyTyrGlyThrLeuValGlnGluGlyGlySerProIleLysTyrAsnLysAspGlySerValAlaIleAlaSerLysProArgGluValArgGluPheAsnGlyGlnHisPheIleLeuGluGluAlaIleThrGlyAspPheAlaLeuValLysAlaTrpLysAlaAspArgAlaGlyAsnValIlePheArgLysSerAlaArgAsnPheAsnLeuProMetCysLysAlaAlaGluThrThrValValGluValGluGluIleValAspIleGlyAlaPheAlaProGluAspIleHisIleProGlnIleTyrValHisArgLeuIleLysGlyGluLysTyrGluLysArgIleGluArgLeuSerIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NR_157114.2:n.437C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704992"
    }
  ],
  "type": "nucleotide"
}