{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916075501",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 505,
          "referenceAllele": "R",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026530",
      "geneNCBI_id": 220136,
      "geneSymbol": "CFAP53",
      "hgvs": [
        "NP_659457.2:p.Arg505Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8962082",
          "hgvs": "NM_145020.5:c.1513C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181826"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=704617[alleleid]",
        "alleleId": 704617,
        "preferredName": "NM_145020.5(CFAP53):c.1513C>T (p.Arg505Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/767053",
        "RCV": [
          "RCV000945693",
          "RCV003413747"
        ],
        "variationId": 767053
      }
    ]
  },
  "type": "amino-acid"
}