{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA273922",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32,
          "referenceAllele": "R",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NP_003995.2:p.Arg32Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA273921",
          "hgvs": "NM_004004.6:c.94C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169746"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186863[alleleid]",
        "alleleId": 186863,
        "preferredName": "NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188758",
        "RCV": [
          "RCV000169075",
          "RCV000614720",
          "RCV000724651",
          "RCV001001448"
        ],
        "variationId": 188758
      }
    ]
  },
  "type": "amino-acid"
}