{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827848560",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 50,
          "referenceAllele": "K",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003688",
      "geneNCBI_id": 2260,
      "geneSymbol": "FGFR1",
      "hgvs": [
        "NP_001341299.1:p.Lys50Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4718752",
          "hgvs": "NM_001354370.2:c.148A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625824"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=305217[alleleid]",
        "alleleId": 305217,
        "preferredName": "NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/362905",
        "RCV": [
          "RCV000289001",
          "RCV000347374",
          "RCV000391006",
          "RCV001584091",
          "RCV001861321",
          "RCV002523679",
          "RCV000386920"
        ],
        "variationId": 362905
      }
    ]
  },
  "type": "amino-acid"
}