{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916069215",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 248,
          "referenceAllele": "R",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NP_075254.1:p.Arg248Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126378",
          "hgvs": "NM_022965.4:c.742C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178049"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31371[alleleid]",
        "alleleId": 31371,
        "preferredName": "NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16332",
        "RCV": [
          "RCV000017731",
          "RCV000017732",
          "RCV000017733",
          "RCV000017734",
          "RCV000017735",
          "RCV000425802",
          "RCV000420041",
          "RCV000432622",
          "RCV000327823",
          "RCV000425165",
          "RCV000443913",
          "RCV000414822",
          "RCV000763118",
          "RCV001196297",
          "RCV001804739",
          "RCV001526641",
          "RCV001849270",
          "RCV002243648",
          "RCV002276552",
          "RCV003155030",
          "RCV003332082",
          "RCV003388567"
        ],
        "variationId": 16332
      }
    ]
  },
  "type": "amino-acid"
}