{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830341269",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 541,
          "referenceAllele": "R",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NP_742056.2:p.Arg541Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119164",
          "hgvs": "NM_172059.5:c.1621A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625702"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22975[alleleid]",
        "alleleId": 22975,
        "preferredName": "NM_000503.6(EYA1):c.1639A>G (p.Arg547Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7936",
        "RCV": [
          "RCV000008398"
        ],
        "variationId": 7936
      }
    ]
  },
  "type": "amino-acid"
}