{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3089199657",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 243,
          "referenceAllele": "G",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NP_001362212.1:p.Gly243Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA357861896",
          "hgvs": "NM_001375283.1:c.728G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706642"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4393020[alleleid]",
        "alleleId": 4393020,
        "preferredName": "NM_000204.5(CFI):c.728G>T (p.Gly243Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4280479",
        "RCV": [
          "RCV005864894"
        ],
        "variationId": 4280479
      }
    ]
  },
  "type": "amino-acid"
}