{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA117040",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47,
          "referenceAllele": "P",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020473",
      "geneNCBI_id": 83990,
      "geneSymbol": "BRIP1",
      "hgvs": [
        "NP_114432.2:p.Pro47Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117038",
          "hgvs": "NM_032043.3:c.139C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179332"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19775[alleleid]",
        "alleleId": 19775,
        "preferredName": "NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4736",
        "RCV": [
          "RCV000005002",
          "RCV000116124",
          "RCV000199377",
          "RCV000200979",
          "RCV000410864",
          "RCV000409748",
          "RCV000587908",
          "RCV000778130",
          "RCV000990044",
          "RCV001090025",
          "RCV003149563"
        ],
        "variationId": 4736
      }
    ]
  },
  "type": "amino-acid"
}