{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916044616",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 80,
          "referenceAllele": "R",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NP_001351014.1:p.Arg80Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119026",
          "hgvs": "NM_001364085.2:c.239G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622714"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22788[alleleid]",
        "alleleId": 22788,
        "preferredName": "NM_000376.3(VDR):c.239G>A (p.Arg80Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7749",
        "RCV": [
          "RCV000008190",
          "RCV002512895"
        ],
        "variationId": 7749
      }
    ]
  },
  "type": "amino-acid"
}