{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829693366",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1203,
          "referenceAllele": "E",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NP_009228.2:p.Glu1203Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA002401",
          "hgvs": "NM_007297.4:c.3607G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172748"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=69654[alleleid]",
        "alleleId": 69654,
        "preferredName": "NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/54987",
        "RCV": [
          "RCV000112170",
          "RCV000148379",
          "RCV000120296",
          "RCV000162713",
          "RCV000167791",
          "RCV000735477",
          "RCV001811340",
          "RCV001353803"
        ],
        "variationId": 54987
      }
    ]
  },
  "type": "amino-acid"
}