{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827063719",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 131,
          "referenceAllele": "K",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005993",
      "geneNCBI_id": 3554,
      "geneSymbol": "IL1R1",
      "hgvs": [
        "NP_001307907.1:p.Lys131Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA347928834",
          "hgvs": "NM_001320978.2:c.391A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS644232"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2739555[alleleid]",
        "alleleId": 2739555,
        "preferredName": "NM_000877.4(IL1R1):c.391A>G (p.Lys131Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2574622",
        "RCV": [
          "RCV003319276"
        ],
        "variationId": 2574622
      }
    ]
  },
  "type": "amino-acid"
}