{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580455370",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 483,
          "referenceAllele": "E",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019041",
      "geneNCBI_id": 79934,
      "geneSymbol": "COQ8B",
      "hgvs": [
        "NP_079152.3:p.Glu483Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9449999",
          "hgvs": "NM_024876.4:c.1447G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178612"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1994183[alleleid]",
        "alleleId": 1994183,
        "preferredName": "NM_024876.4(COQ8B):c.1447G>A (p.Glu483Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1940044",
        "RCV": [
          "RCV002650322"
        ],
        "variationId": 1940044
      }
    ]
  },
  "type": "amino-acid"
}