{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828512199",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 93,
          "referenceAllele": "N",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NP_001361350.1:p.Asn93Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3138065",
          "hgvs": "NM_001374421.1:c.277A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707643"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=734518[alleleid]",
        "alleleId": 734518,
        "preferredName": "NM_001199397.3(NEK1):c.277A>G (p.Asn93Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/733576",
        "RCV": [
          "RCV000908886",
          "RCV001150481"
        ],
        "variationId": 733576
      }
    ]
  },
  "type": "amino-acid"
}