{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828512500",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 904,
          "referenceAllele": "T",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NP_001361350.1:p.Thr904Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3137222",
          "hgvs": "NM_001374421.1:c.2710A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707643"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1114694[alleleid]",
        "alleleId": 1114694,
        "preferredName": "NM_001199397.3(NEK1):c.3193A>G (p.Thr1065Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1138974",
        "RCV": [
          "RCV001475508",
          "RCV001566607",
          "RCV003980398"
        ],
        "variationId": 1138974
      }
    ]
  },
  "type": "amino-acid"
}