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      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Arg1563Ter",
        "hgvsWellDefined": "NP_000486.1:p.Arg1563_Thr1685delinsCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA259082",
      "coordinates": [
        {
          "allele": "T",
          "end": 4993,
          "referenceAllele": "C",
          "start": 4992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.3:c.4705C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Arg1569Ter",
        "hgvsWellDefined": "NP_203699.1:p.Arg1569_Thr1691delinsCysAlaValCysGluAlaProAlaValValIleAlaValHisSerGlnThrIleGlnIleProHisCysProGlnGlyTrpAspSerLeuTrpIleGlyTyrSerPheMetMetHisThrSerAlaGlyAlaGluGlySerGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgSerAlaProPheIleGluCysHisGlyArgGlyThrCysAsnTyrTyrAlaAsnSerTyrSerPheTrpLeuAlaThrValAspValSerAspMetPheSerLysProGlnSerGluThrLeuLysAlaGlyAspLeuArgThrArgIleSerArgCysGlnValCysMetLysArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.4705C>T"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.4705C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Arg1569Ter"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Arg1569Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}