{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3249371058",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 580,
          "referenceAllele": "L",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NP_851397.1:p.Leu580Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA389928265",
          "hgvs": "NM_181054.3:c.1740G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA389928266",
          "hgvs": "NM_181054.3:c.1740G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184167"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4504941[alleleid]",
        "alleleId": 4504941,
        "preferredName": "NM_001530.4(HIF1A):c.1740G>T (p.Leu580Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4398085",
        "RCV": [
          "RCV006082301"
        ],
        "variationId": 4398085
      }
    ]
  },
  "type": "amino-acid"
}