{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916069166",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 84,
          "referenceAllele": "S",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NP_075254.1:p.Ser84Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341425",
          "hgvs": "NM_022965.4:c.251C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178049"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31397[alleleid]",
        "alleleId": 31397,
        "preferredName": "NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16358",
        "RCV": [
          "RCV000017769",
          "RCV000850610",
          "RCV001334259",
          "RCV002513086"
        ],
        "variationId": 16358
      }
    ]
  },
  "type": "amino-acid"
}