{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826243274",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1169,
          "referenceAllele": "H",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NP_001186329.1:p.His1169Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA358799912",
          "hgvs": "NM_001199400.3:c.3506A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157565"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3360037[alleleid]",
        "alleleId": 3360037,
        "preferredName": "NM_001199397.3(NEK1):c.3722A>G (p.His1241Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3191645",
        "RCV": [
          "RCV004478515"
        ],
        "variationId": 3191645
      }
    ]
  },
  "type": "amino-acid"
}