{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828736003",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 179,
          "referenceAllele": "R",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NP_001364959.1:p.Arg179Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7789543",
          "hgvs": "NM_001378030.1:c.536G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737770"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=530300[alleleid]",
        "alleleId": 530300,
        "preferredName": "NM_001378030.1(CCDC78):c.536G>A (p.Arg179Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/540468",
        "RCV": [
          "RCV000650511",
          "RCV002531962"
        ],
        "variationId": 540468
      }
    ]
  },
  "type": "amino-acid"
}