{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825198840",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 788,
          "referenceAllele": "R",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NP_000486.1:p.Arg788Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10488898",
          "hgvs": "NM_000495.4:c.2362C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147030"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=786678[alleleid]",
        "alleleId": 786678,
        "preferredName": "NM_033380.3(COL4A5):c.2362C>T (p.Arg788Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/798491",
        "RCV": [
          "RCV000982036",
          "RCV001827109"
        ],
        "variationId": 798491
      }
    ]
  },
  "type": "amino-acid"
}