{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658679006",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 723,
          "referenceAllele": "R",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021144",
      "geneNCBI_id": 29940,
      "geneSymbol": "DSE",
      "hgvs": [
        "NP_037484.1:p.Arg723Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3969774",
          "hgvs": "NM_013352.4:c.2168G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173278"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=443858[alleleid]",
        "alleleId": 443858,
        "preferredName": "NM_013352.4(DSE):c.2168G>A (p.Arg723Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/452829",
        "RCV": [
          "RCV000520971",
          "RCV001853691",
          "RCV004023623"
        ],
        "variationId": 452829
      }
    ]
  },
  "type": "amino-acid"
}