{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827938348",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 249,
          "referenceAllele": "S",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NP_001341739.1:p.Ser249Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126380",
          "hgvs": "NM_001354810.2:c.746C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618415"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31378[alleleid]",
        "alleleId": 31378,
        "preferredName": "NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16339",
        "RCV": [
          "RCV000017745",
          "RCV000017742",
          "RCV000017743",
          "RCV000017744",
          "RCV000297175",
          "RCV000417690",
          "RCV000431989",
          "RCV000420501",
          "RCV000438171",
          "RCV000435437",
          "RCV000424421",
          "RCV000763119",
          "RCV002276554",
          "RCV003155033",
          "RCV003758684",
          "RCV004532377",
          "RCV003989294"
        ],
        "variationId": 16339
      }
    ]
  },
  "type": "amino-acid"
}