{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828511830",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 298,
          "referenceAllele": "N",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NP_001361349.1:p.Asn298Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3137916",
          "hgvs": "NM_001374420.1:c.894C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA358736294",
          "hgvs": "NM_001374420.1:c.894C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707646"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1694857[alleleid]",
        "alleleId": 1694857,
        "preferredName": "NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1702470",
        "RCV": [
          "RCV002278788",
          "RCV003096285"
        ],
        "variationId": 1702470
      }
    ]
  },
  "type": "amino-acid"
}