{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573225292",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 115,
          "referenceAllele": "M",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011529",
      "geneNCBI_id": 4072,
      "geneSymbol": "EPCAM",
      "hgvs": [
        "NP_002345.2:p.Met115Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA346723280",
          "hgvs": "NM_002354.3:c.344T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168210"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1683999[alleleid]",
        "alleleId": 1683999,
        "preferredName": "NM_002354.3(EPCAM):c.344T>A (p.Met115Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1691520",
        "RCV": [
          "RCV002254849"
        ],
        "variationId": 1691520
      }
    ]
  },
  "type": "amino-acid"
}