{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827613974",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 175,
          "referenceAllele": "R",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NP_001338431.1:p.Arg175Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116072",
          "hgvs": "NM_001351502.2:c.524G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625732"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18247[alleleid]",
        "alleleId": 18247,
        "preferredName": "NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3208",
        "RCV": [
          "RCV000003362",
          "RCV000724028",
          "RCV001254647",
          "RCV001036532",
          "RCV001192872",
          "RCV003466793"
        ],
        "variationId": 3208
      }
    ]
  },
  "type": "amino-acid"
}