{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA112677",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 42,
          "referenceAllele": "R",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004285",
      "geneNCBI_id": 2707,
      "geneSymbol": "GJB3",
      "hgvs": [
        "NP_001005752.1:p.Arg42Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118307",
          "hgvs": "NM_001005752.2:c.125G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148264"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21528[alleleid]",
        "alleleId": 21528,
        "preferredName": "NM_024009.3(GJB3):c.125G>C (p.Arg42Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6489",
        "RCV": [
          "RCV000006862"
        ],
        "variationId": 6489
      }
    ]
  },
  "type": "amino-acid"
}