{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645464303",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 60,
          "referenceAllele": "S",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011529",
      "geneNCBI_id": 4072,
      "geneSymbol": "EPCAM",
      "hgvs": [
        "NP_002345.2:p.Ser60Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1648897",
          "hgvs": "NM_002354.3:c.179C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168210"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=238787[alleleid]",
        "alleleId": 238787,
        "preferredName": "NM_002354.3(EPCAM):c.179C>T (p.Ser60Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/239124",
        "RCV": [
          "RCV000764417",
          "RCV002408966",
          "RCV003539823"
        ],
        "variationId": 239124
      }
    ]
  },
  "type": "amino-acid"
}