{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499298873",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 689,
          "referenceAllele": "R",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026877",
      "geneNCBI_id": 150468,
      "geneSymbol": "CKAP2L",
      "hgvs": [
        "NP_689728.3:p.Arg689His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1836472",
          "hgvs": "NM_152515.5:c.2066G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182458"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1023672[alleleid]",
        "alleleId": 1023672,
        "preferredName": "NM_152515.5(CKAP2L):c.2066G>A (p.Arg689His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1040806",
        "RCV": [
          "RCV001344516",
          "RCV001730757"
        ],
        "variationId": 1040806
      }
    ]
  },
  "type": "amino-acid"
}