{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499275437",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 61,
          "referenceAllele": "G",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "NP_008872.1:p.Gly61Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA324166571",
          "hgvs": "NM_006941.4:c.181G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172446"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1018832[alleleid]",
        "alleleId": 1018832,
        "preferredName": "NM_006941.4(SOX10):c.181G>A (p.Gly61Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1027698",
        "RCV": [
          "RCV001328563",
          "RCV003135983"
        ],
        "variationId": 1027698
      }
    ]
  },
  "type": "amino-acid"
}