{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA333984",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 15,
          "referenceAllele": "R",
          "start": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004283",
      "geneNCBI_id": 2705,
      "geneSymbol": "GJB1",
      "hgvs": [
        "NP_001091111.1:p.Arg15Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA333982",
          "hgvs": "NM_001097642.3:c.43C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151022"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33936[alleleid]",
        "alleleId": 33936,
        "preferredName": "NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21084",
        "RCV": [
          "RCV000236824",
          "RCV000167902",
          "RCV000789234",
          "RCV000020174"
        ],
        "variationId": 21084
      }
    ]
  },
  "type": "amino-acid"
}