{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828512399",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 611,
          "referenceAllele": "V",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NP_001361350.1:p.Val611Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3137507",
          "hgvs": "NM_001374421.1:c.1831G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707643"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260872[alleleid]",
        "alleleId": 260872,
        "preferredName": "NM_001199397.3(NEK1):c.2137G>A (p.Val713Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/266049",
        "RCV": [
          "RCV000334816",
          "RCV000492577",
          "RCV000756420",
          "RCV001148831"
        ],
        "variationId": 266049
      }
    ]
  },
  "type": "amino-acid"
}