{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253656",
  "communityStandardTitle": [
    "NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter)"
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  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3802763",
        "active": true,
        "id": "COSM3802763"
      }
    ],
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      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5955",
        "RCV": [
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          "RCV003555936"
        ],
        "variationId": 5955
      }
    ],
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      {
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      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169446716G>A?assembly=hg19",
        "id": "chr1:g.169446716G>A"
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        "@id": "http://myvariant.info/v1/variant/chr1:g.169477478G>A?assembly=hg38",
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315373",
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    },
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      "chromosome": "1",
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    {
      "chromosome": "1",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768963"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "endIntronDirection": "-",
          "endIntronOffset": 7291,
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          "startIntronOffset": 7292
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031957"
    },
    {
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        {
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          "start": 306
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      ],
      "gene": "http://reg.genome.network/gene/GN010938",
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      "geneSymbol": "SLC19A2",
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        "hgvsWellDefined": "XP_011507378.1:p.Arg98_Ser433delinsSerAlaThrLeuValGlyPheThrValGlySerValLeuGlyGlnIleLeuValSerValAlaGlyTrpSerLeuPheSerLeuAsnValIleSerLeuThrCysValSerValAlaPheAlaValAlaTrpPheLeuProMetProGlnLysSerLeuPhePheHisHisIleProSerThrCysGlnArgValAsnGlyIleLysValGlnAsnGlyGlyIleValThrAspThrProAlaSerAsnHisLeuProGlyTrpGluAspIleGluSerLysIleProLeuAsnMetGluGluProProValGluGluProGluProLysProAspArgLeuLeuValLeuLysValLeuTrpAsnAspPheLeuMetCysTyrSerSerArgProLeuLeuCysTrpSerValTrpTrpAlaLeuSerThrCysGlyTyrPheGlnValValAsnTyrThrGlnGlyLeuTrpGluLysValMetProSerArgTyrAlaAlaIleTyrAsnGlyGlyValGluAlaValSerThrLeuLeuGlyAlaValAlaValPheAlaValGlyTyrIleLysIleSerTrpSerThrTrpGlyGluMetThrLeuSerLeuPheSerLeuLeuIleAlaAlaAlaValTyrIleMetAspThrValGlyAsnIleTrpValCysTyrAlaSerTyrValValPheArgIleIleTyrMetLeuLeuIleThrIleAlaThrPheGlnIleAlaAlaAsnLeuSerMetGluArgTyrAlaLeuValPheGlyValAsnThrPheIleAlaLeuAlaLeuGlnThrLeuLeuThrLeuIleValValAspAlaSerGlyLeuGlyLeuGluIleThrThrGlnPheLeuIleTyrAlaSerTyrPheAlaLeuIleAlaValValPheLeuAlaSerGlyAlaValSerValMetLysLysCysArgLysLeuGluAspProGlnSerSerSerGlnValThrThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 408,
          "endIntronDirection": "-",
          "endIntronOffset": 7291,
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          "start": 408,
          "startIntronDirection": "-",
          "startIntronOffset": 7292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS076347"
    },
    {
      "coordinates": [
        {
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          "endIntronDirection": "-",
          "endIntronOffset": 7291,
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          "startIntronDirection": "-",
          "startIntronOffset": 7292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001306596.1:n.205-7292C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513371"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253657",
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
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      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "NM_006996.3:c.484C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008927.1:p.Arg162Ter",
        "hgvsWellDefined": "NP_008927.1:p.Arg162_Ser497delinsSerAlaThrLeuValGlyPheThrValGlySerValLeuGlyGlnIleLeuValSerValAlaGlyTrpSerLeuPheSerLeuAsnValIleSerLeuThrCysValSerValAlaPheAlaValAlaTrpPheLeuProMetProGlnLysSerLeuPhePheHisHisIleProSerThrCysGlnArgValAsnGlyIleLysValGlnAsnGlyGlyIleValThrAspThrProAlaSerAsnHisLeuProGlyTrpGluAspIleGluSerLysIleProLeuAsnMetGluGluProProValGluGluProGluProLysProAspArgLeuLeuValLeuLysValLeuTrpAsnAspPheLeuMetCysTyrSerSerArgProLeuLeuCysTrpSerValTrpTrpAlaLeuSerThrCysGlyTyrPheGlnValValAsnTyrThrGlnGlyLeuTrpGluLysValMetProSerArgTyrAlaAlaIleTyrAsnGlyGlyValGluAlaValSerThrLeuLeuGlyAlaValAlaValPheAlaValGlyTyrIleLysIleSerTrpSerThrTrpGlyGluMetThrLeuSerLeuPheSerLeuLeuIleAlaAlaAlaValTyrIleMetAspThrValGlyAsnIleTrpValCysTyrAlaSerTyrValValPheArgIleIleTyrMetLeuLeuIleThrIleAlaThrPheGlnIleAlaAlaAsnLeuSerMetGluArgTyrAlaLeuValPheGlyValAsnThrPheIleAlaLeuAlaLeuGlnThrLeuLeuThrLeuIleValValAspAlaSerGlyLeuGlyLeuGluIleThrThrGlnPheLeuIleTyrAlaSerTyrPheAlaLeuIleAlaValValPheLeuAlaSerGlyAlaValSerValMetLysLysCysArgLysLeuGluAspProGlnSerSerSerGlnValThrThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_006996.3:c.484C>T"
          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NP_008927.1:p.Arg162Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}