{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139718185",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 108,
          "referenceAllele": "M",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "NP_008872.1:p.Met108Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA411500677",
          "hgvs": "NM_006941.4:c.323T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172446"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=983641[alleleid]",
        "alleleId": 983641,
        "preferredName": "NM_006941.4(SOX10):c.323T>C (p.Met108Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/995929",
        "RCV": [
          "RCV001290167",
          "RCV002245947",
          "RCV004528449"
        ],
        "variationId": 995929
      }
    ]
  },
  "type": "amino-acid"
}