{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA254395",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 267,
          "referenceAllele": "R",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003815",
      "geneNCBI_id": 2299,
      "geneSymbol": "FOXI1",
      "hgvs": [
        "NP_036320.2:p.Arg267Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254394",
          "hgvs": "NM_012188.5:c.800G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172916"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23489[alleleid]",
        "alleleId": 23489,
        "preferredName": "NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8450",
        "RCV": [
          "RCV000008966",
          "RCV000008965"
        ],
        "variationId": 8450
      }
    ]
  },
  "type": "amino-acid"
}