{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826720320",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 378,
          "referenceAllele": "R",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NP_001275676.1:p.Arg378Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16608850",
          "hgvs": "NM_001288747.2:c.1133G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164046"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=379257[alleleid]",
        "alleleId": 379257,
        "preferredName": "NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379736",
        "RCV": [
          "RCV000442656",
          "RCV000779660",
          "RCV001257984",
          "RCV003530047"
        ],
        "variationId": 379736
      }
    ]
  },
  "type": "amino-acid"
}