{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828511378",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 261,
          "referenceAllele": "R",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NP_001361348.1:p.Arg261His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA203762",
          "hgvs": "NM_001374419.1:c.782G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707626"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196284[alleleid]",
        "alleleId": 196284,
        "preferredName": "NM_001199397.3(NEK1):c.782G>A (p.Arg261His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199125",
        "RCV": [
          "RCV000180637",
          "RCV000492285",
          "RCV000659006",
          "RCV001086419",
          "RCV003917685",
          "RCV002287889"
        ],
        "variationId": 199125
      }
    ]
  },
  "type": "amino-acid"
}