{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916048099",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 11,
          "referenceAllele": "G",
          "start": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004288",
      "geneNCBI_id": 10804,
      "geneSymbol": "GJB6",
      "hgvs": [
        "NP_001357021.1:p.Gly11Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253526",
          "hgvs": "NM_001370092.1:c.31G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA387469000",
          "hgvs": "NM_001370092.1:c.31G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707600"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20583[alleleid]",
        "alleleId": 20583,
        "preferredName": "NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5544",
        "RCV": [
          "RCV000005882",
          "RCV000255581",
          "RCV000645727",
          "RCV000762909",
          "RCV003335016"
        ],
        "variationId": 5544
      }
    ]
  },
  "type": "amino-acid"
}