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  "communityStandardTitle": [
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          "RCV001199941"
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      "referenceSequence": "http://reg.genome.network/refseq/RS077818"
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      "proteinEffect": {
        "hgvs": "XP_011508858.1:p.Arg802Ter",
        "hgvsWellDefined": "XP_011508858.1:p.Arg802_His1257delinsGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3781,
          "referenceAllele": "C",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.2:n.3781C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3676,
          "referenceAllele": "C",
          "start": 3675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.3:c.3538C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:p.Arg1180Ter",
        "hgvsWellDefined": "XP_005246334.1:p.Arg1180_His1635delinsGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2837,
          "referenceAllele": "C",
          "start": 2836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.2:c.2404C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:p.Arg802Ter",
        "hgvsWellDefined": "XP_011508858.1:p.Arg802_His1257delinsGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3781,
          "referenceAllele": "C",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.3:n.3781C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913191519",
      "coordinates": [
        {
          "allele": "T",
          "end": 3746,
          "referenceAllele": "C",
          "start": 3745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.5:c.3643C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Arg1215Ter",
        "hgvsWellDefined": "NP_000082.2:p.Arg1215_His1670delinsGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674698",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.3643C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.3643C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Arg1215Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Arg1215Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}