{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827342882",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 158,
          "referenceAllele": "C",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025740",
      "geneNCBI_id": 84131,
      "geneSymbol": "CEP78",
      "hgvs": [
        "NP_001317622.1:p.Cys158Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5094924",
          "hgvs": "NM_001330693.3:c.473G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625019"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1046230[alleleid]",
        "alleleId": 1046230,
        "preferredName": "NM_001330691.3(CEP78):c.473G>T (p.Cys158Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1058404",
        "RCV": [
          "RCV001367538"
        ],
        "variationId": 1058404
      }
    ]
  },
  "type": "amino-acid"
}