{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828568208",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 243,
          "referenceAllele": "G",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NP_001362209.1:p.Gly243Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121905",
          "hgvs": "NM_001375280.1:c.728G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706635"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27163[alleleid]",
        "alleleId": 27163,
        "preferredName": "NM_000204.5(CFI):c.728G>A (p.Gly243Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12124",
        "RCV": [
          "RCV000012907"
        ],
        "variationId": 12124
      }
    ]
  },
  "type": "amino-acid"
}