{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA133976",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 194,
          "referenceAllele": "S",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NP_001934.2:p.Ser194Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA022199",
          "hgvs": "NM_001943.5:c.581C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167825"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53491[alleleid]",
        "alleleId": 53491,
        "preferredName": "NM_001943.5(DSG2):c.581C>T (p.Ser194Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44324",
        "RCV": [
          "RCV000037312",
          "RCV000642313",
          "RCV001560109",
          "RCV003162323",
          "RCV002482987"
        ],
        "variationId": 44324
      }
    ]
  },
  "type": "amino-acid"
}