{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829700991",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 582,
          "referenceAllele": "H",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NP_009229.2:p.His582Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA003178",
          "hgvs": "NM_007298.3:c.1746T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA10591404",
          "hgvs": "NM_007298.3:c.1746T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172749"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70033[alleleid]",
        "alleleId": 70033,
        "preferredName": "NM_007294.4(BRCA1):c.5058T>A (p.His1686Gln)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=854058[alleleid]",
        "alleleId": 854058,
        "preferredName": "NM_007294.4(BRCA1):c.5058T>G (p.His1686Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/55366",
        "RCV": [
          "RCV000577351",
          "RCV001076302",
          "RCV002513663"
        ],
        "variationId": 55366
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/868572",
        "RCV": [
          "RCV001077498"
        ],
        "variationId": 868572
      }
    ]
  },
  "type": "amino-acid"
}