{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829699841",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 221,
          "referenceAllele": "A",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NP_009229.2:p.Ala221Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA003780",
          "hgvs": "NM_007298.3:c.661G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172749"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46246[alleleid]",
        "alleleId": 46246,
        "preferredName": "NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37690",
        "RCV": [
          "RCV000031271",
          "RCV000165438",
          "RCV000200971",
          "RCV001498329",
          "RCV001703433"
        ],
        "variationId": 37690
      }
    ]
  },
  "type": "amino-acid"
}