{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580337889",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 251,
          "referenceAllele": "S",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011190",
      "geneNCBI_id": 6663,
      "geneSymbol": "SOX10",
      "hgvs": [
        "NP_008872.1:p.Ser251Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA411494490",
          "hgvs": "NM_006941.4:c.752C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172446"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2477328[alleleid]",
        "alleleId": 2477328,
        "preferredName": "NM_006941.4(SOX10):c.752C>T (p.Ser251Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2499352",
        "RCV": [
          "RCV003221653"
        ],
        "variationId": 2499352
      }
    ]
  },
  "type": "amino-acid"
}