{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139718203",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 129,
          "referenceAllele": "L",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "NP_008872.1:p.Leu129Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA411500214",
          "hgvs": "NM_006941.4:c.386T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172446"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=983637[alleleid]",
        "alleleId": 983637,
        "preferredName": "NM_006941.4(SOX10):c.386T>C (p.Leu129Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/995933",
        "RCV": [
          "RCV001290171"
        ],
        "variationId": 995933
      }
    ]
  },
  "type": "amino-acid"
}