{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645467868",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 74,
          "referenceAllele": "R",
          "start": 73
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001037",
      "geneNCBI_id": 629,
      "geneSymbol": "CFB",
      "hgvs": [
        "NP_001701.2:p.Arg74His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3727968",
          "hgvs": "NM_001710.6:c.221G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167600"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=299798[alleleid]",
        "alleleId": 299798,
        "preferredName": "NM_001710.6(CFB):c.221G>A (p.Arg74His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/356268",
        "RCV": [
          "RCV000294898",
          "RCV000338675",
          "RCV000404287",
          "RCV001155035",
          "RCV002058591"
        ],
        "variationId": 356268
      }
    ]
  },
  "type": "amino-acid"
}