{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA117043",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 299,
          "referenceAllele": "M",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "NP_114432.2:p.Met299Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117041",
          "hgvs": "NM_032043.3:c.897G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA400484678",
          "hgvs": "NM_032043.3:c.897G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA400484679",
          "hgvs": "NM_032043.3:c.897G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179332"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19776[alleleid]",
        "alleleId": 19776,
        "preferredName": "NM_032043.3(BRIP1):c.897G>A (p.Met299Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4737",
        "RCV": [
          "RCV000005003",
          "RCV000582137",
          "RCV000636166"
        ],
        "variationId": 4737
      }
    ]
  },
  "type": "amino-acid"
}