{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA334916",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 426,
          "referenceAllele": "E",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NP_077740.1:p.Glu426Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA022445",
          "hgvs": "NM_024422.6:c.1276G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197946[alleleid]",
        "alleleId": 197946,
        "preferredName": "NM_024422.6(DSC2):c.1276G>A (p.Glu426Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199783",
        "RCV": [
          "RCV000181178",
          "RCV003532013"
        ],
        "variationId": 199783
      }
    ]
  },
  "type": "amino-acid"
}