{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830127234",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "EGGTCHSAPCPPLPLTTVTSQT",
          "end": 1690,
          "referenceAllele": "",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002208",
      "geneNCBI_id": 1288,
      "geneSymbol": "COL4A6",
      "hgvs": [
        "NP_378667.1:p.Leu1690_Ter1691insGluGlyGlyThrCysHisSerAlaProCysProProLeuProLeuThrThrValThrSerGlnThr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA236362",
          "hgvs": "NM_033641.4:c.5071T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180328"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=189056[alleleid]",
        "alleleId": 189056,
        "preferredName": "NM_033641.4(COL4A6):c.5071T>G (p.Ter1691Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191253",
        "RCV": [
          "RCV000171443",
          "RCV003965228"
        ],
        "variationId": 191253
      }
    ]
  },
  "type": "amino-acid"
}