{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916044712",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NP_001351229.1:p.Cys463Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119339",
          "hgvs": "NM_001364300.2:c.1388G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS661007"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23203[alleleid]",
        "alleleId": 23203,
        "preferredName": "NM_000436.4(OXCT1):c.1367G>T (p.Cys456Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8164",
        "RCV": [
          "RCV000008642"
        ],
        "variationId": 8164
      }
    ]
  },
  "type": "amino-acid"
}