{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826974638",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 22,
          "referenceAllele": "C",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005387",
      "geneNCBI_id": 3422,
      "geneSymbol": "IDI1",
      "hgvs": [
        "NP_001304884.1:p.Cys22Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA375853580",
          "hgvs": "NM_001317955.2:c.65G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS652368"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2253552[alleleid]",
        "alleleId": 2253552,
        "preferredName": "NM_004508.4(IDI1):c.233G>T (p.Cys78Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2268470",
        "RCV": [
          "RCV004125250"
        ],
        "variationId": 2268470
      }
    ]
  },
  "type": "amino-acid"
}