{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827266872",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 303,
          "referenceAllele": "L",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018591",
      "geneNCBI_id": 91754,
      "geneSymbol": "NEK9",
      "hgvs": [
        "NP_001316166.1:p.Leu303Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16042938",
          "hgvs": "NM_001329237.2:c.908T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625050"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360171[alleleid]",
        "alleleId": 360171,
        "preferredName": "NM_033116.6(NEK9):c.908T>C (p.Leu303Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373374",
        "RCV": [
          "RCV000414495"
        ],
        "variationId": 373374
      }
    ]
  },
  "type": "amino-acid"
}