{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA119554",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 248,
          "referenceAllele": "N",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "NP_003254.2:p.Asn248Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119553",
          "hgvs": "NM_003263.4:c.743A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169060"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23400[alleleid]",
        "alleleId": 23400,
        "preferredName": "NM_003263.4(TLR1):c.743A>G (p.Asn248Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8361",
        "RCV": [
          "RCV000008866",
          "RCV003974811"
        ],
        "variationId": 8361
      }
    ]
  },
  "type": "amino-acid"
}