{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA334950",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 294,
          "referenceAllele": "K",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NP_001934.2:p.Lys294Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA022347",
          "hgvs": "NM_001943.5:c.880A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167825"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197976[alleleid]",
        "alleleId": 197976,
        "preferredName": "NM_001943.5(DSG2):c.880A>G (p.Lys294Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199803",
        "RCV": [
          "RCV000455978",
          "RCV000642318",
          "RCV000757178",
          "RCV001177919",
          "RCV000845343"
        ],
        "variationId": 199803
      }
    ]
  },
  "type": "amino-acid"
}