{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658806320",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 413,
          "referenceAllele": "M",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013387",
      "geneNCBI_id": 284086,
      "geneSymbol": "NEK8",
      "hgvs": [
        "NP_835464.1:p.Met413Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8467364",
          "hgvs": "NM_178170.3:c.1237A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA398352444",
          "hgvs": "NM_178170.3:c.1237A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183982"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=530912[alleleid]",
        "alleleId": 530912,
        "preferredName": "NM_178170.3(NEK8):c.1237A>C (p.Met413Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/539144",
        "RCV": [
          "RCV000648817",
          "RCV002294361",
          "RCV003945643"
        ],
        "variationId": 539144
      }
    ]
  },
  "type": "amino-acid"
}