{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA113538",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 165,
          "referenceAllele": "G",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002400",
      "geneNCBI_id": 1417,
      "geneSymbol": "CRYBB3",
      "hgvs": [
        "NP_004067.1:p.Gly165Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278142",
          "hgvs": "NM_004076.5:c.493G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169810"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31987[alleleid]",
        "alleleId": 31987,
        "preferredName": "NM_004076.4(CRYBB3):c.[493G>C];[493G>C]"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16948",
        "RCV": [
          "RCV000018457",
          "RCV000203352"
        ],
        "variationId": 16948
      }
    ]
  },
  "type": "amino-acid"
}