{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826790854",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1060,
          "referenceAllele": "R",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NP_001278214.1:p.Arg1060Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3072271",
          "hgvs": "NM_001291285.3:c.3178C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164642"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2119839[alleleid]",
        "alleleId": 2119839,
        "preferredName": "NM_001291303.3(FAT4):c.3178C>T (p.Arg1060Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2070606",
        "RCV": [
          "RCV002971277",
          "RCV002971276"
        ],
        "variationId": 2070606
      }
    ]
  },
  "type": "amino-acid"
}