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        "XR_001738606.1:n.4542+13989C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13989,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738607.1:n.4542+13989C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5094,
          "referenceAllele": "C",
          "start": 5093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922837.2:n.5094C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827585",
      "coordinates": [
        {
          "allele": "T",
          "end": 5068,
          "referenceAllele": "C",
          "start": 5067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "NM_000092.5:c.4768C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000083.3:p.Gln1590Ter",
        "hgvsWellDefined": "NP_000083.3:p.Gln1590_Ser1690delinsThrTrpArgSerLeuTrpIleGlyTyrSerPheLeuMetHisThrGlyAlaGlyAspGlnGlyGlyGlyGlnAlaLeuMetSerProGlySerCysLeuGluAspPheArgAlaAlaProPheLeuGluCysGlnGlyArgGlnGlyThrCysHisPhePheAlaAsnLysTyrSerPheTrpLeuThrThrValLysAlaAspLeuGlnPheSerSerAlaProAlaProAspThrLeuLysGluSerGlnAlaGlnArgGlnLysIleSerArgCysGlnValCysValLysTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674699",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396625.5:c.4768C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000092.5:c.4768C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379866.3:p.Gln1590Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000083.3:p.Gln1590Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}