{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891844942",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 191,
          "referenceAllele": "L",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NP_000118.2:p.Leu191Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA371915543",
          "hgvs": "NM_000127.3:c.572T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146677"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=561922[alleleid]",
        "alleleId": 561922,
        "preferredName": "NM_000127.3(EXT1):c.572T>C (p.Leu191Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/566120",
        "RCV": [
          "RCV000685852"
        ],
        "variationId": 566120
      }
    ]
  },
  "type": "amino-acid"
}