{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA357927",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "referenceAllele": "R",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NP_694534.1:p.Arg598Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA357926",
          "hgvs": "NM_152989.3:c.1792C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182739"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226652[alleleid]",
        "alleleId": 226652,
        "preferredName": "NM_006940.6(SOX5):c.1831C>G (p.Arg611Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224817",
        "RCV": [
          "RCV000210408"
        ],
        "variationId": 224817
      }
    ]
  },
  "type": "amino-acid"
}