{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1640281",
  "communityStandardTitle": [
    "NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)"
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  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3185286",
        "active": true,
        "id": "COSM3185286"
      }
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        "preferredName": "NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/336195",
        "RCV": [
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          "RCV001723928",
          "RCV003313951"
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        "variationId": 336195
      }
    ],
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      {
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      }
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        "@id": "http://myvariant.info/v1/variant/chr2:g.44513213C>T?assembly=hg19",
        "id": "chr2:g.44513213C>T"
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    ],
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        "@id": "http://myvariant.info/v1/variant/chr2:g.44286074C>T?assembly=hg38",
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      "referenceSequence": "http://reg.genome.network/refseq/RS281368"
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      "referenceSequence": "http://reg.genome.network/refseq/RS281498"
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS281810"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS282085"
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    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS401099"
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      "@id": "http://reg.genome.network/allele/PA645426401",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006404"
    },
    {
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      ],
      "proteinEffect": {
        "hgvs": "XP_011531349.1:p.Arg270Ter",
        "hgvsWellDefined": "XP_011531349.1:p.Arg270_Lys564delinsAsnGlnCysTyrPheHisGlnPheMetLysGluGlnProAspLeuAsnPheArgAsnProAspValGlnGluGluIleLysGluIleLeuArgPheTrpLeuThrLysGlyValAspGlyPheSerLeuAspAlaValLysPheLeuLeuGluAlaLysHisLeuArgAspGluIleGlnValAsnLysThrGlnIleProAspThrValThrGlnTyrSerGluLeuTyrHisAspPheThrThrThrGlnValGlyMetHisAspIleValArgSerPheArgGlnThrMetAspGlnTyrSerThrGluProGlyArgTyrArgPheMetGlyThrGluAlaTyrAlaGluSerIleAspArgThrValMetTyrTyrGlyLeuProPheIleGlnGluAlaAspPheProPheAsnAsnTyrLeuSerMetLeuAspThrValSerGlyAsnSerValTyrGluValIleThrSerTrpMetGluAsnMetProGluGlyLysTrpProAsnTrpMetIleGlyGlyProAspSerSerArgLeuThrSerArgLeuGlyAsnGlnTyrValAsnValMetAsnMetLeuLeuPheThrLeuProGlyThrProIleThrTyrTyrGlyGluGluIleGlyMetGlyAsnIleValAlaAlaAsnLeuAsnGluSerTyrAspIleAsnThrLeuArgSerLysSerProMetGlnTrpAspAsnSerSerAsnAlaGlyPheSerGluAlaSerAsnThrTrpLeuProThrAsnSerAspTyrHisThrValAsnValAspSerCysSerValThrHisAlaArgValGlnTrpArgAspLeuGlyThrLeuGlnProLeuLeuProGlyPheLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 880,
          "referenceAllele": "C",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011025",
      "geneNCBI_id": 6519,
      "geneSymbol": "SLC3A1",
      "hgvs": [
        "XM_011533047.3:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531349.1:p.Arg270Ter",
        "hgvsWellDefined": "XP_011531349.1:p.Arg270_Lys564delinsAsnGlnCysTyrPheHisGlnPheMetLysGluGlnProAspLeuAsnPheArgAsnProAspValGlnGluGluIleLysGluIleLeuArgPheTrpLeuThrLysGlyValAspGlyPheSerLeuAspAlaValLysPheLeuLeuGluAlaLysHisLeuArgAspGluIleGlnValAsnLysThrGlnIleProAspThrValThrGlnTyrSerGluLeuTyrHisAspPheThrThrThrGlnValGlyMetHisAspIleValArgSerPheArgGlnThrMetAspGlnTyrSerThrGluProGlyArgTyrArgPheMetGlyThrGluAlaTyrAlaGluSerIleAspArgThrValMetTyrTyrGlyLeuProPheIleGlnGluAlaAspPheProPheAsnAsnTyrLeuSerMetLeuAspThrValSerGlyAsnSerValTyrGluValIleThrSerTrpMetGluAsnMetProGluGlyLysTrpProAsnTrpMetIleGlyGlyProAspSerSerArgLeuThrSerArgLeuGlyAsnGlnTyrValAsnValMetAsnMetLeuLeuPheThrLeuProGlyThrProIleThrTyrTyrGlyGluGluIleGlyMetGlyAsnIleValAlaAlaAsnLeuAsnGluSerTyrAspIleAsnThrLeuArgSerLysSerProMetGlnTrpAspAsnSerSerAsnAlaGlyPheSerGluAlaSerAsnThrTrpLeuProThrAsnSerAspTyrHisThrValAsnValAspSerCysSerValThrHisAlaArgValGlnTrpArgAspLeuGlyThrLeuGlnProLeuLeuProGlyPheLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551090"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645426401",
      "coordinates": [
        {
          "allele": "T",
          "end": 864,
          "referenceAllele": "C",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011025",
      "geneNCBI_id": 6519,
      "geneSymbol": "SLC3A1",
      "hgvs": [
        "NM_000341.4:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000332.2:p.Arg270Ter",
        "hgvsWellDefined": "NP_000332.2:p.Arg270_Cys685delinsAsnGlnCysTyrPheHisGlnPheMetLysGluGlnProAspLeuAsnPheArgAsnProAspValGlnGluGluIleLysGluIleLeuArgPheTrpLeuThrLysGlyValAspGlyPheSerLeuAspAlaValLysPheLeuLeuGluAlaLysHisLeuArgAspGluIleGlnValAsnLysThrGlnIleProAspThrValThrGlnTyrSerGluLeuTyrHisAspPheThrThrThrGlnValGlyMetHisAspIleValArgSerPheArgGlnThrMetAspGlnTyrSerThrGluProGlyArgTyrArgPheMetGlyThrGluAlaTyrAlaGluSerIleAspArgThrValMetTyrTyrGlyLeuProPheIleGlnGluAlaAspPheProPheAsnAsnTyrLeuSerMetLeuAspThrValSerGlyAsnSerValTyrGluValIleThrSerTrpMetGluAsnMetProGluGlyLysTrpProAsnTrpMetIleGlyGlyProAspSerSerArgLeuThrSerArgLeuGlyAsnGlnTyrValAsnValMetAsnMetLeuLeuPheThrLeuProGlyThrProIleThrTyrTyrGlyGluGluIleGlyMetGlyAsnIleValAlaAlaAsnLeuAsnGluSerTyrAspIleAsnThrLeuArgSerLysSerProMetGlnTrpAspAsnSerSerAsnAlaGlyPheSerGluAlaSerAsnThrTrpLeuProThrAsnSerAspTyrHisThrValAsnValAspValGlnLysThrGlnProArgSerAlaLeuLysLeuTyrGlnAspLeuSerLeuLeuHisAlaAsnGluLeuLeuLeuAsnArgGlyTrpPheCysHisLeuArgAsnAspSerHisTyrValValTyrThrArgGluLeuAspGlyIleAspArgIlePheIleValValLeuAsnPheGlyGluSerThrLeuLeuAsnLeuHisAsnMetIleSerGlyLeuProAlaLysMetArgIleArgLeuSerThrAsnSerAlaAspLysGlySerLysValAspThrSerGlyIlePheLeuAspLysGlyGluGlyLeuIlePheGluHisAsnThrLysAsnLeuLeuHisArgGlnThrAlaPheArgAspArgCysPheValSerAsnArgAlaCysTyrSerSerValLeuAsnIleLeuTyrThrSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674798",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260649.11:c.808C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000341.4:c.808C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260649.6:p.Arg270Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000332.2:p.Arg270Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}