{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3890395",
  "communityStandardTitle": [
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      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/440272",
        "RCV": [
          "RCV000506820",
          "RCV000670139",
          "RCV000763561",
          "RCV001270049",
          "RCV001093179"
        ],
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    ],
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      {
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      {
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      {
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    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058555"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS102753"
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS722476"
    },
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      "proteinEffect": {
        "hgvs": "NP_001369562.1:p.Tyr306Ter",
        "hgvsWellDefined": "NP_001369562.1:p.Tyr306_Lys533delinsThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAlaGlyValGlnTrpArgAsnLeuSerSerProGlnProLeuProProGlyPheArgArgPheSerCysLeuSerLeuProAsnSerTrpAspTyrArgThrLeuLeuGluAsnGlyLysProCysSerIleLeuLeuLeuLeuLeuMetPheLeuValProPheSerLeuHisTyrSerProLysValLysTyrLysThrGlyLeuSerMetIleThrMetAspThrAspThrGluGlyThrAsnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 925,
          "endIntronDirection": "-",
          "endIntronOffset": 6416,
          "referenceAllele": "T",
          "start": 925,
          "startIntronDirection": "-",
          "startIntronOffset": 6417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382634.1:c.820-6417T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369563.1:n.820-6417T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722478"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1021,
          "referenceAllele": "T",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382635.1:c.915T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369564.1:p.Tyr305Ter",
        "hgvsWellDefined": "NP_001369564.1:p.Tyr305_His494delinsThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 740,
          "referenceAllele": "T",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382636.1:c.600T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369565.1:p.Tyr200Ter",
        "hgvsWellDefined": "NP_001369565.1:p.Tyr200_His389delinsThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722480"
    }
  ],
  "type": "nucleotide"
}