{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA237093",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 279,
          "referenceAllele": "R",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NP_077740.1:p.Arg279Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA022936",
          "hgvs": "NM_024422.6:c.835C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44671[alleleid]",
        "alleleId": 44671,
        "preferredName": "NM_024422.6(DSC2):c.835C>T (p.Arg279Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36007",
        "RCV": [
          "RCV000029665",
          "RCV000171894",
          "RCV001122945",
          "RCV003318335",
          "RCV003488350",
          "RCV003996118",
          "RCV004018685"
        ],
        "variationId": 36007
      }
    ]
  },
  "type": "amino-acid"
}