{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139675143",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1550,
          "referenceAllele": "E",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NP_000050.3:p.Glu1550Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6940803",
          "hgvs": "NM_000059.4:c.4648G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735694"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227536[alleleid]",
        "alleleId": 227536,
        "preferredName": "NM_000059.4(BRCA2):c.4648G>C (p.Glu1550Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225743",
        "RCV": [
          "RCV000210981",
          "RCV000496491",
          "RCV001022836",
          "RCV001321133"
        ],
        "variationId": 225743
      }
    ]
  },
  "type": "amino-acid"
}