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  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA016275",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197655[alleleid]",
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/200076",
        "RCV": [
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          "RCV000245533",
          "RCV000525187",
          "RCV000663852",
          "RCV002509285",
          "RCV000769629"
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/763091520",
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      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.6169C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Arg2057Ter",
        "hgvsWellDefined": "NP_000129.3:p.Arg2057_His2871delinsMetSerTyrCysTyrAlaLysPheGluGlyGlyLysCysSerSerProLysSerArgAsnHisSerLysGlnGluCysCysCysAlaLeuLysGlyGluGlyTrpGlyAspProCysGluLeuCysProThrGluProAspGluAlaPheArgGlnIleCysProTyrGlySerGlyIleIleValGlyProAspAspSerAlaValAspMetAspGluCysLysGluProAspValCysLysHisGlyGlnCysIleAsnThrAspGlySerTyrArgCysGluCysProPheGlyTyrIleLeuAlaGlyAsnGluCysValAspThrAspGluCysSerValGlyAsnProCysGlyAsnGlyThrCysLysAsnValIleGlyGlyPheGluCysThrCysGluGluGlyPheGluProGlyProMetMetThrCysGluAspIleAsnGluCysAlaGlnAsnProLeuLeuCysAlaPheArgCysValAsnThrTyrGlySerTyrGluCysLysCysProValGlyTyrValLeuArgGluAspArgArgMetCysLysAspGluAspGluCysGluGluGlyLysHisAspCysThrGluLysGlnMetGluCysLysAsnLeuIleGlyThrTyrMetCysIleCysGlyProGlyTyrGlnArgArgProAspGlyGluGlyCysValAspGluAsnGluCysGlnThrLysProGlyIleCysGluAsnGlyArgCysLeuAsnThrArgGlySerTyrThrCysGluCysAsnAspGlyPheThrAlaSerProAsnGlnAspGluCysLeuAspAsnArgGluGlyTyrCysPheThrGluValLeuGlnAsnMetCysGlnIleGlySerSerAsnArgAsnProValThrLysSerGluCysCysCysAspGlyGlyArgGlyTrpGlyProHisCysGluIleCysProPheGlnGlyThrValAlaPheLysLysLeuCysProHisGlyArgGlyPheMetThrAsnGlyAlaAspIleAspGluCysLysValIleHisAspValCysArgAsnGlyGluCysValAsnAspArgGlySerTyrHisCysIleCysLysThrGlyTyrThrProAspIleThrGlyThrSerCysValAspLeuAsnGluCysAsnGlnAlaProLysProCysAsnPheIleCysLysAsnThrGluGlySerTyrGlnCysSerCysProLysGlyTyrIleLeuGlnGluAspGlyArgSerCysLysAspLeuAspGluCysAlaThrLysGlnHisAsnCysGlnPheLeuCysValAsnThrIleGlyGlyPheThrCysLysCysProProGlyPheThrGlnHisHisThrSerCysIleAspAsnAsnGluCysThrSerAspIleAsnLeuCysGlySerLysGlyIleCysGlnAsnThrProGlySerPheThrCysGluCysGlnArgGlyPheSerLeuAspGlnThrGlySerSerCysGluAspValAspGluCysGluGlyAsnHisArgCysGlnHisGlyCysGlnAsnIleIleGlyGlyTyrArgCysSerCysProGlnGlyTyrLeuGlnHisTyrGlnTrpAsnGlnCysValAspGluAsnGluCysLeuSerAlaHisIleCysGlyGlyAlaSerCysHisAsnThrLeuGlySerTyrLysCysMetCysProAlaGlyPheGlnTyrGluGlnPheSerGlyGlyCysGlnAspIleAsnGluCysGlySerAlaGlnAlaProCysSerTyrGlyCysSerAsnThrGluGlyGlyTyrLeuCysGlyCysProProGlyTyrPheArgIleGlyGlnGlyHisCysValSerGlyMetGlyMetGlyArgGlyAsnProGluProProValSerGlyGluMetAspAspAsnSerLeuSerProGluAlaCysTyrGluCysLysIleAsnGlyTyrProLysArgGlyArgLysArgArgSerThrAsnGluThrAspAlaSerAsnIleGluAspGlnSerGluThrGluAlaAsnValSerLeuAlaSerTrpAspValGluLysThrAlaIlePheAlaPheAsnIleSerHisValSerAsnLysValArgIleLeuGluLeuLeuProAlaLeuThrThrLeuThrAsnHisAsnArgTyrLeuIleGluSerGlyAsnGluAspGlyPhePheLysIleAsnGlnLysGluGlyIleSerTyrLeuHisPheThrLysLysLysProValAlaGlyThrTyrSerLeuGlnIleSerSerThrProLeuTyrLysLysLysGluLeuAsnGlnLeuGluAspLysTyrAspLysAspTyrLeuSerGlyGluLeuGlyAspAsnLeuLysMetLysIleGlnValLeuLeuHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.6169C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.6169C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Arg2057Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Arg2057Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}