{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100619",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 46,
          "referenceAllele": "R",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NP_001934.2:p.Arg46Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA021364",
          "hgvs": "NM_001943.5:c.137G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167825"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31851[alleleid]",
        "alleleId": 31851,
        "preferredName": "NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16812",
        "RCV": [
          "RCV000018305",
          "RCV000211714",
          "RCV000181197",
          "RCV001798008",
          "RCV002381255",
          "RCV002482885"
        ],
        "variationId": 16812
      }
    ]
  },
  "type": "amino-acid"
}