{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825793971",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 486,
          "referenceAllele": "D",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NP_001135935.1:p.Asp486Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10567282",
          "hgvs": "NM_001142463.2:c.1456G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153376"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=999701[alleleid]",
        "alleleId": 999701,
        "preferredName": "NM_001363.5(DKC1):c.1471G>A (p.Asp491Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1010558",
        "RCV": [
          "RCV001308200",
          "RCV004034159"
        ],
        "variationId": 1010558
      }
    ]
  },
  "type": "amino-acid"
}