{
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  "@id": "http://reg.genome.network/allele/CA16603558",
  "communityStandardTitle": [
    "NM_006147.4(IRF6):c.454C>T (p.Gln152Ter)"
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379807",
        "RCV": [
          "RCV000443013",
          "RCV001851052",
          "RCV004554773"
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        "variationId": 379807
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209968689G>A?assembly=hg19",
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        "@id": "http://myvariant.info/v1/variant/chr1:g.209795344G>A?assembly=hg38",
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520738",
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "1",
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    },
    {
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS363691"
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      "referenceSequence": "http://reg.genome.network/refseq/RS017832"
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031176"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS667315",
      "MANE": {
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    {
      "@id": "http://reg.genome.network/allele/PA916004942",
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        "hgvsWellDefined": "NP_001193625.1:p.Gln57_Gln372delinsSerGlnHisHisValProIleGlnAspThrPheProPheLeuAsnIleAsnGlySerProMetAlaProAlaSerValGlyAsnCysSerValGlyAsnCysSerProGluAlaValTrpProLysThrGluProLeuGluMetGluValProGlnAlaProIleGlnProPheTyrSerSerProGluLeuTrpIleSerSerLeuProMetThrAspLeuAspIleLysPheGlnTyrArgGlyLysGluTyrGlyGlnThrMetThrValSerAsnProGlnGlyCysArgLeuPheTyrGlyAspLeuGlyProMetProAspGlnGluGluLeuPheGlyProValSerLeuGluGlnValLysPheProGlyProGluHisIleThrAsnGluLysGlnLysLeuPheThrSerLysLeuLeuAspValMetAspArgGlyLeuIleLeuGluValSerGlyHisAlaIleTyrAlaIleArgLeuCysGlnCysLysValTyrTrpSerGlyProCysAlaProSerLeuValAlaProAsnLeuIleGluArgGlnLysLysValLysLeuPheCysLeuGluThrPheLeuSerAspLeuIleAlaHisGlnLysGlyGlnIleGluLysGlnProProPheGluIleTyrLeuCysPheGlyGluGluTrpProAspGlyLysProLeuGluArgLysLeuIleLeuValGlnValIleProValValAlaArgMetIleTyrGluMetPheSerGlyAspPheThrArgSerPheAspSerGlySerValArgLeuGlnIleSerThrProAspIleLysAspAsnIleValAlaGlnLeuLysGlnLeuTyrArgIleLeuGlnThrGlnGluSerTrpGlnProMetGlnProThrProSerMetGlnLeuProProAlaLeuProProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714222"
    }
  ],
  "type": "nucleotide"
}