{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100627",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 49,
          "referenceAllele": "R",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NP_001934.2:p.Arg49His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA021393",
          "hgvs": "NM_001943.5:c.146G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167825"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31849[alleleid]",
        "alleleId": 31849,
        "preferredName": "NM_001943.5(DSG2):c.146G>A (p.Arg49His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16810",
        "RCV": [
          "RCV000018303",
          "RCV000211715",
          "RCV000181198",
          "RCV002254518"
        ],
        "variationId": 16810
      }
    ]
  },
  "type": "amino-acid"
}