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  "@id": "http://reg.genome.network/allele/CA016131",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42393",
        "RCV": [
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          "RCV000181551",
          "RCV001852714"
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      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Gln1955Ter",
        "hgvsWellDefined": "NP_000129.3:p.Gln1955_His2871delinsCysGlnCysAsnGluGlyTyrGluValAlaProAspGlyArgThrCysValAspIleAsnGluCysLeuLeuGluProArgLysCysAlaProGlyThrCysGlnAsnLeuAspGlySerTyrArgCysIleCysProProGlyTyrSerLeuGlnAsnGluLysCysGluAspIleAspGluCysValGluGluProGluIleCysAlaLeuGlyThrCysSerAsnThrGluGlySerPheLysCysLeuCysProGluGlyPheSerLeuSerSerSerGlyArgArgCysGlnAspLeuArgMetSerTyrCysTyrAlaLysPheGluGlyGlyLysCysSerSerProLysSerArgAsnHisSerLysGlnGluCysCysCysAlaLeuLysGlyGluGlyTrpGlyAspProCysGluLeuCysProThrGluProAspGluAlaPheArgGlnIleCysProTyrGlySerGlyIleIleValGlyProAspAspSerAlaValAspMetAspGluCysLysGluProAspValCysLysHisGlyGlnCysIleAsnThrAspGlySerTyrArgCysGluCysProPheGlyTyrIleLeuAlaGlyAsnGluCysValAspThrAspGluCysSerValGlyAsnProCysGlyAsnGlyThrCysLysAsnValIleGlyGlyPheGluCysThrCysGluGluGlyPheGluProGlyProMetMetThrCysGluAspIleAsnGluCysAlaGlnAsnProLeuLeuCysAlaPheArgCysValAsnThrTyrGlySerTyrGluCysLysCysProValGlyTyrValLeuArgGluAspArgArgMetCysLysAspGluAspGluCysGluGluGlyLysHisAspCysThrGluLysGlnMetGluCysLysAsnLeuIleGlyThrTyrMetCysIleCysGlyProGlyTyrGlnArgArgProAspGlyGluGlyCysValAspGluAsnGluCysGlnThrLysProGlyIleCysGluAsnGlyArgCysLeuAsnThrArgGlySerTyrThrCysGluCysAsnAspGlyPheThrAlaSerProAsnGlnAspGluCysLeuAspAsnArgGluGlyTyrCysPheThrGluValLeuGlnAsnMetCysGlnIleGlySerSerAsnArgAsnProValThrLysSerGluCysCysCysAspGlyGlyArgGlyTrpGlyProHisCysGluIleCysProPheGlnGlyThrValAlaPheLysLysLeuCysProHisGlyArgGlyPheMetThrAsnGlyAlaAspIleAspGluCysLysValIleHisAspValCysArgAsnGlyGluCysValAsnAspArgGlySerTyrHisCysIleCysLysThrGlyTyrThrProAspIleThrGlyThrSerCysValAspLeuAsnGluCysAsnGlnAlaProLysProCysAsnPheIleCysLysAsnThrGluGlySerTyrGlnCysSerCysProLysGlyTyrIleLeuGlnGluAspGlyArgSerCysLysAspLeuAspGluCysAlaThrLysGlnHisAsnCysGlnPheLeuCysValAsnThrIleGlyGlyPheThrCysLysCysProProGlyPheThrGlnHisHisThrSerCysIleAspAsnAsnGluCysThrSerAspIleAsnLeuCysGlySerLysGlyIleCysGlnAsnThrProGlySerPheThrCysGluCysGlnArgGlyPheSerLeuAspGlnThrGlySerSerCysGluAspValAspGluCysGluGlyAsnHisArgCysGlnHisGlyCysGlnAsnIleIleGlyGlyTyrArgCysSerCysProGlnGlyTyrLeuGlnHisTyrGlnTrpAsnGlnCysValAspGluAsnGluCysLeuSerAlaHisIleCysGlyGlyAlaSerCysHisAsnThrLeuGlySerTyrLysCysMetCysProAlaGlyPheGlnTyrGluGlnPheSerGlyGlyCysGlnAspIleAsnGluCysGlySerAlaGlnAlaProCysSerTyrGlyCysSerAsnThrGluGlyGlyTyrLeuCysGlyCysProProGlyTyrPheArgIleGlyGlnGlyHisCysValSerGlyMetGlyMetGlyArgGlyAsnProGluProProValSerGlyGluMetAspAspAsnSerLeuSerProGluAlaCysTyrGluCysLysIleAsnGlyTyrProLysArgGlyArgLysArgArgSerThrAsnGluThrAspAlaSerAsnIleGluAspGlnSerGluThrGluAlaAsnValSerLeuAlaSerTrpAspValGluLysThrAlaIlePheAlaPheAsnIleSerHisValSerAsnLysValArgIleLeuGluLeuLeuProAlaLeuThrThrLeuThrAsnHisAsnArgTyrLeuIleGluSerGlyAsnGluAspGlyPhePheLysIleAsnGlnLysGluGlyIleSerTyrLeuHisPheThrLysLysLysProValAlaGlyThrTyrSerLeuGlnIleSerSerThrProLeuTyrLysLysLysGluLeuAsnGlnLeuGluAspLysTyrAspLysAspTyrLeuSerGlyGluLeuGlyAspAsnLeuLysMetLysIleGlnValLeuLeuHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA282259",
      "coordinates": [
        {
          "allele": "T",
          "end": 6179,
          "referenceAllele": "C",
          "start": 6178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.5863C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Gln1955Ter",
        "hgvsWellDefined": "NP_000129.3:p.Gln1955_His2871delinsCysGlnCysAsnGluGlyTyrGluValAlaProAspGlyArgThrCysValAspIleAsnGluCysLeuLeuGluProArgLysCysAlaProGlyThrCysGlnAsnLeuAspGlySerTyrArgCysIleCysProProGlyTyrSerLeuGlnAsnGluLysCysGluAspIleAspGluCysValGluGluProGluIleCysAlaLeuGlyThrCysSerAsnThrGluGlySerPheLysCysLeuCysProGluGlyPheSerLeuSerSerSerGlyArgArgCysGlnAspLeuArgMetSerTyrCysTyrAlaLysPheGluGlyGlyLysCysSerSerProLysSerArgAsnHisSerLysGlnGluCysCysCysAlaLeuLysGlyGluGlyTrpGlyAspProCysGluLeuCysProThrGluProAspGluAlaPheArgGlnIleCysProTyrGlySerGlyIleIleValGlyProAspAspSerAlaValAspMetAspGluCysLysGluProAspValCysLysHisGlyGlnCysIleAsnThrAspGlySerTyrArgCysGluCysProPheGlyTyrIleLeuAlaGlyAsnGluCysValAspThrAspGluCysSerValGlyAsnProCysGlyAsnGlyThrCysLysAsnValIleGlyGlyPheGluCysThrCysGluGluGlyPheGluProGlyProMetMetThrCysGluAspIleAsnGluCysAlaGlnAsnProLeuLeuCysAlaPheArgCysValAsnThrTyrGlySerTyrGluCysLysCysProValGlyTyrValLeuArgGluAspArgArgMetCysLysAspGluAspGluCysGluGluGlyLysHisAspCysThrGluLysGlnMetGluCysLysAsnLeuIleGlyThrTyrMetCysIleCysGlyProGlyTyrGlnArgArgProAspGlyGluGlyCysValAspGluAsnGluCysGlnThrLysProGlyIleCysGluAsnGlyArgCysLeuAsnThrArgGlySerTyrThrCysGluCysAsnAspGlyPheThrAlaSerProAsnGlnAspGluCysLeuAspAsnArgGluGlyTyrCysPheThrGluValLeuGlnAsnMetCysGlnIleGlySerSerAsnArgAsnProValThrLysSerGluCysCysCysAspGlyGlyArgGlyTrpGlyProHisCysGluIleCysProPheGlnGlyThrValAlaPheLysLysLeuCysProHisGlyArgGlyPheMetThrAsnGlyAlaAspIleAspGluCysLysValIleHisAspValCysArgAsnGlyGluCysValAsnAspArgGlySerTyrHisCysIleCysLysThrGlyTyrThrProAspIleThrGlyThrSerCysValAspLeuAsnGluCysAsnGlnAlaProLysProCysAsnPheIleCysLysAsnThrGluGlySerTyrGlnCysSerCysProLysGlyTyrIleLeuGlnGluAspGlyArgSerCysLysAspLeuAspGluCysAlaThrLysGlnHisAsnCysGlnPheLeuCysValAsnThrIleGlyGlyPheThrCysLysCysProProGlyPheThrGlnHisHisThrSerCysIleAspAsnAsnGluCysThrSerAspIleAsnLeuCysGlySerLysGlyIleCysGlnAsnThrProGlySerPheThrCysGluCysGlnArgGlyPheSerLeuAspGlnThrGlySerSerCysGluAspValAspGluCysGluGlyAsnHisArgCysGlnHisGlyCysGlnAsnIleIleGlyGlyTyrArgCysSerCysProGlnGlyTyrLeuGlnHisTyrGlnTrpAsnGlnCysValAspGluAsnGluCysLeuSerAlaHisIleCysGlyGlyAlaSerCysHisAsnThrLeuGlySerTyrLysCysMetCysProAlaGlyPheGlnTyrGluGlnPheSerGlyGlyCysGlnAspIleAsnGluCysGlySerAlaGlnAlaProCysSerTyrGlyCysSerAsnThrGluGlyGlyTyrLeuCysGlyCysProProGlyTyrPheArgIleGlyGlnGlyHisCysValSerGlyMetGlyMetGlyArgGlyAsnProGluProProValSerGlyGluMetAspAspAsnSerLeuSerProGluAlaCysTyrGluCysLysIleAsnGlyTyrProLysArgGlyArgLysArgArgSerThrAsnGluThrAspAlaSerAsnIleGluAspGlnSerGluThrGluAlaAsnValSerLeuAlaSerTrpAspValGluLysThrAlaIlePheAlaPheAsnIleSerHisValSerAsnLysValArgIleLeuGluLeuLeuProAlaLeuThrThrLeuThrAsnHisAsnArgTyrLeuIleGluSerGlyAsnGluAspGlyPhePheLysIleAsnGlnLysGluGlyIleSerTyrLeuHisPheThrLysLysLysProValAlaGlyThrTyrSerLeuGlnIleSerSerThrProLeuTyrLysLysLysGluLeuAsnGlnLeuGluAspLysTyrAspLysAspTyrLeuSerGlyGluLeuGlyAspAsnLeuLysMetLysIleGlnValLeuLeuHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.5863C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.5863C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Gln1955Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Gln1955Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}