{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827938764",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 785,
          "referenceAllele": "K",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NP_001341739.1:p.Lys785Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA344898",
          "hgvs": "NM_001354810.2:c.2353A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618415"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76472[alleleid]",
        "alleleId": 76472,
        "preferredName": "NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65564",
        "RCV": [
          "RCV000055766",
          "RCV001569868"
        ],
        "variationId": 65564
      }
    ]
  },
  "type": "amino-acid"
}