{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645504297",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 644,
          "referenceAllele": "I",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021307",
      "geneNCBI_id": 147409,
      "geneSymbol": "DSG4",
      "hgvs": [
        "NP_817123.1:p.Ile644Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8927121",
          "hgvs": "NM_177986.5:c.1930A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183924"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=331139[alleleid]",
        "alleleId": 331139,
        "preferredName": "NM_177986.5(DSG4):c.1930A>C (p.Ile644Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/326441",
        "RCV": [
          "RCV000309846",
          "RCV001660674"
        ],
        "variationId": 326441
      }
    ]
  },
  "type": "amino-acid"
}