{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3084558998",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 499,
          "referenceAllele": "Q",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "NP_114432.2:p.Gln499Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA400481436",
          "hgvs": "NM_032043.3:c.1495C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179332"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4325756[alleleid]",
        "alleleId": 4325756,
        "preferredName": "NM_032043.3(BRIP1):c.1495C>G (p.Gln499Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4216269",
        "RCV": [
          "RCV005781463"
        ],
        "variationId": 4216269
      }
    ]
  },
  "type": "amino-acid"
}