{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826549696",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 289,
          "referenceAllele": "E",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018672",
      "geneNCBI_id": 55755,
      "geneSymbol": "CDK5RAP2",
      "hgvs": [
        "NP_001258968.1:p.Glu289Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA171598",
          "hgvs": "NM_001272039.2:c.865G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161248"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34509[alleleid]",
        "alleleId": 34509,
        "preferredName": "NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21657",
        "RCV": [
          "RCV000407188",
          "RCV001642232",
          "RCV000020847",
          "RCV000145507"
        ],
        "variationId": 21657
      }
    ]
  },
  "type": "amino-acid"
}