{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA167090",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 411,
          "referenceAllele": "D",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NP_009225.1:p.Asp411Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA000811",
          "hgvs": "NM_007294.4:c.1233T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA10599587",
          "hgvs": "NM_007294.4:c.1233T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172747"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50243[alleleid]",
        "alleleId": 50243,
        "preferredName": "NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41804",
        "RCV": [
          "RCV000034726",
          "RCV000083166",
          "RCV000130781",
          "RCV000428573",
          "RCV001356304",
          "RCV001080838"
        ],
        "variationId": 41804
      }
    ]
  },
  "type": "amino-acid"
}