{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827848316",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 503,
          "referenceAllele": "R",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003688",
      "geneNCBI_id": 2260,
      "geneSymbol": "FGFR1",
      "hgvs": [
        "NP_001341298.1:p.Arg503His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4718357",
          "hgvs": "NM_001354369.2:c.1508G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617917"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=425792[alleleid]",
        "alleleId": 425792,
        "preferredName": "NM_023110.3(FGFR1):c.1520G>A (p.Arg507His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/432990",
        "RCV": [
          "RCV000498726",
          "RCV001253587",
          "RCV002481592",
          "RCV001857029"
        ],
        "variationId": 432990
      }
    ]
  },
  "type": "amino-acid"
}