{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826242846",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 1099,
          "referenceAllele": "N",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NP_001186328.1:p.Asn1099Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA358800254",
          "hgvs": "NM_001199399.1:c.3295A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157564"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1363684[alleleid]",
        "alleleId": 1363684,
        "preferredName": "NM_001199397.3(NEK1):c.3586A>G (p.Asn1196Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1360240",
        "RCV": [
          "RCV001872447",
          "RCV003264141"
        ],
        "variationId": 1360240
      }
    ]
  },
  "type": "amino-acid"
}