{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645424074",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 249,
          "referenceAllele": "E",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006460",
      "geneNCBI_id": 3889,
      "geneSymbol": "KRT83",
      "hgvs": [
        "NP_002273.3:p.Glu249Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6577554",
          "hgvs": "NM_002282.3:c.745G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168151"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415350[alleleid]",
        "alleleId": 415350,
        "preferredName": "NM_002282.3(KRT83):c.745G>C (p.Glu249Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426884",
        "RCV": [
          "RCV000489546",
          "RCV004023258"
        ],
        "variationId": 426884
      }
    ]
  },
  "type": "amino-acid"
}