{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA122733",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "referenceAllele": "A",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011195",
      "geneNCBI_id": 6657,
      "geneSymbol": "SOX2",
      "hgvs": [
        "NP_003097.1:p.Ala191Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA122731",
          "hgvs": "NM_003106.4:c.571G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168923"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27865[alleleid]",
        "alleleId": 27865,
        "preferredName": "NM_003106.4(SOX2):c.571G>A (p.Ala191Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12826",
        "RCV": [
          "RCV000013674",
          "RCV000624040",
          "RCV002513019"
        ],
        "variationId": 12826
      }
    ]
  },
  "type": "amino-acid"
}