{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915956504",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 62,
          "referenceAllele": "V",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "NP_001014975.1:p.Val62Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126660",
          "hgvs": "NM_001014975.3:c.184G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148990"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31589[alleleid]",
        "alleleId": 31589,
        "preferredName": "NM_000186.4(CFH):c.184G>A (p.Val62Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16550",
        "RCV": [
          "RCV000018017",
          "RCV000190297",
          "RCV000274380",
          "RCV000374816",
          "RCV000331871",
          "RCV001579191",
          "RCV002293982"
        ],
        "variationId": 16550
      }
    ]
  },
  "type": "amino-acid"
}