{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827938762",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 785,
          "referenceAllele": "K",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NP_001341739.1:p.Lys785Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA344897",
          "hgvs": "NM_001354810.2:c.2353A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618415"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76471[alleleid]",
        "alleleId": 76471,
        "preferredName": "NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65563",
        "RCV": [
          "RCV000055765",
          "RCV002298459"
        ],
        "variationId": 65563
      }
    ]
  },
  "type": "amino-acid"
}