{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830277988",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 602,
          "referenceAllele": "D",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030696",
      "geneNCBI_id": 134430,
      "geneSymbol": "WDR36",
      "hgvs": [
        "NP_644810.2:p.Asp602Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115071",
          "hgvs": "NM_139281.3:c.1805A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739203"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16619[alleleid]",
        "alleleId": 16619,
        "preferredName": "NM_139281.3(WDR36):c.1805A>G (p.Asp602Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1580",
        "RCV": [
          "RCV000001647",
          "RCV000246285",
          "RCV002512656"
        ],
        "variationId": 1580
      }
    ]
  },
  "type": "amino-acid"
}