{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829711264",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 149,
          "referenceAllele": "E",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NP_009230.2:p.Glu149Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA002865",
          "hgvs": "NM_007299.4:c.446A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172750"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46150[alleleid]",
        "alleleId": 46150,
        "preferredName": "NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37594",
        "RCV": [
          "RCV000031175",
          "RCV000240737",
          "RCV000479398",
          "RCV000458634",
          "RCV000764128",
          "RCV000219296",
          "RCV001357250",
          "RCV002267803"
        ],
        "variationId": 37594
      }
    ]
  },
  "type": "amino-acid"
}