{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916039460",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 784,
          "referenceAllele": "V",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NP_001341739.1:p.Val784Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341404",
          "hgvs": "NM_001354810.2:c.2351T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618415"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31374[alleleid]",
        "alleleId": 31374,
        "preferredName": "NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16335",
        "RCV": [
          "RCV000017738",
          "RCV000520562",
          "RCV002504801"
        ],
        "variationId": 16335
      }
    ]
  },
  "type": "amino-acid"
}