{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826481413",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 289,
          "referenceAllele": "P",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NP_001248343.1:p.Pro289Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16043468",
          "hgvs": "NM_001261414.3:c.865C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160421"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360940[alleleid]",
        "alleleId": 360940,
        "preferredName": "NM_006940.6(SOX5):c.904C>T (p.Pro302Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374147",
        "RCV": [
          "RCV000414883"
        ],
        "variationId": 374147
      }
    ]
  },
  "type": "amino-acid"
}