{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580315122",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 781,
          "referenceAllele": "Q",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006388",
      "geneNCBI_id": 3832,
      "geneSymbol": "KIF11",
      "hgvs": [
        "NP_004514.2:p.Gln781Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA377594009",
          "hgvs": "NM_004523.4:c.2341C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170222"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2250945[alleleid]",
        "alleleId": 2250945,
        "preferredName": "NM_004523.4(KIF11):c.2341C>G (p.Gln781Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2270619",
        "RCV": [
          "RCV002809602"
        ],
        "variationId": 2270619
      }
    ]
  },
  "type": "amino-acid"
}