{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA180673",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 165,
          "referenceAllele": "R",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004284",
      "geneNCBI_id": 2706,
      "geneSymbol": "GJB2",
      "hgvs": [
        "NP_003995.2:p.Arg165Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA180672",
          "hgvs": "NM_004004.6:c.493C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169746"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175762[alleleid]",
        "alleleId": 175762,
        "preferredName": "NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/177736",
        "RCV": [
          "RCV000154346",
          "RCV000299050",
          "RCV000404295",
          "RCV000668216",
          "RCV000724444"
        ],
        "variationId": 177736
      }
    ]
  },
  "type": "amino-acid"
}