{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830004917",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 538,
          "referenceAllele": "K",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NP_075254.1:p.Lys538Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA170755",
          "hgvs": "NM_022965.4:c.1612A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178049"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31387[alleleid]",
        "alleleId": 31387,
        "preferredName": "NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16348",
        "RCV": [
          "RCV000017757",
          "RCV000144153",
          "RCV000430843",
          "RCV000437923",
          "RCV002228032"
        ],
        "variationId": 16348
      }
    ]
  },
  "type": "amino-acid"
}