{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826242699",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 624,
          "referenceAllele": "R",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NP_001186328.1:p.Arg624Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3137486",
          "hgvs": "NM_001199399.1:c.1870C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157564"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=890439[alleleid]",
        "alleleId": 890439,
        "preferredName": "NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/902344",
        "RCV": [
          "RCV001148830",
          "RCV003413954",
          "RCV002559430"
        ],
        "variationId": 902344
      }
    ]
  },
  "type": "amino-acid"
}