{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499228223",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 289,
          "referenceAllele": "R",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "NP_000083.3:p.Arg289Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2145402",
          "hgvs": "NM_000092.5:c.865C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146644"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1019585[alleleid]",
        "alleleId": 1019585,
        "preferredName": "NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1031388",
        "RCV": [
          "RCV001333201",
          "RCV002546616"
        ],
        "variationId": 1031388
      }
    ]
  },
  "type": "amino-acid"
}