{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645473544",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 493,
          "referenceAllele": "S",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000904",
      "geneNCBI_id": 8313,
      "geneSymbol": "AXIN2",
      "hgvs": [
        "NP_004646.3:p.Ser493Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8718638",
          "hgvs": "NM_004655.4:c.1478C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170348"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=242913[alleleid]",
        "alleleId": 242913,
        "preferredName": "NM_004655.4(AXIN2):c.1478C>G (p.Ser493Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/239989",
        "RCV": [
          "RCV000232865",
          "RCV000523658",
          "RCV001011714",
          "RCV002487071",
          "RCV003475822"
        ],
        "variationId": 239989
      }
    ]
  },
  "type": "amino-acid"
}