{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139718375",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "referenceAllele": "A",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "NP_008872.1:p.Ala361Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10228533",
          "hgvs": "NM_006941.4:c.1081G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172446"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=971160[alleleid]",
        "alleleId": 971160,
        "preferredName": "NM_006941.4(SOX10):c.1081G>A (p.Ala361Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/982663",
        "RCV": [
          "RCV001262265",
          "RCV002537632"
        ],
        "variationId": 982663
      }
    ]
  },
  "type": "amino-acid"
}