{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826720268",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 321,
          "referenceAllele": "L",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NP_001275676.1:p.Leu321Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA343264",
          "hgvs": "NM_001288747.2:c.961C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164046"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47561[alleleid]",
        "alleleId": 47561,
        "preferredName": "NM_001363.5(DKC1):c.961C>G (p.Leu321Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38958",
        "RCV": [
          "RCV000032209"
        ],
        "variationId": 38958
      }
    ]
  },
  "type": "amino-acid"
}