{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658831307",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 32,
          "referenceAllele": "R",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NP_003995.2:p.Arg32Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA387461995",
          "hgvs": "NM_004004.6:c.94C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169746"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=547329[alleleid]",
        "alleleId": 547329,
        "preferredName": "NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/550195",
        "RCV": [
          "RCV000664869",
          "RCV000762905",
          "RCV001861739"
        ],
        "variationId": 550195
      }
    ]
  },
  "type": "amino-acid"
}