{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573185262",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 397,
          "referenceAllele": "L",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NP_001156685.1:p.Leu397Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA355979201",
          "hgvs": "NM_001163213.2:c.1189C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154831"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1671816[alleleid]",
        "alleleId": 1671816,
        "preferredName": "NM_000142.5(FGFR3):c.1183C>A (p.Leu395Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1679899",
        "RCV": [
          "RCV002227915"
        ],
        "variationId": 1679899
      }
    ]
  },
  "type": "amino-acid"
}