{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891848470",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 50,
          "referenceAllele": "S",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NP_001354.1:p.Ser50Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA414888963",
          "hgvs": "NM_001363.5:c.149C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167303"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=573737[alleleid]",
        "alleleId": 573737,
        "preferredName": "NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/574416",
        "RCV": [
          "RCV000696342"
        ],
        "variationId": 574416
      }
    ]
  },
  "type": "amino-acid"
}