{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828292741",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 18,
          "referenceAllele": "G",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NP_001355817.1:p.Gly18Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10606574",
          "hgvs": "NM_001368888.2:c.52G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA379959645",
          "hgvs": "NM_001368888.2:c.52G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709717"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274086[alleleid]",
        "alleleId": 274086,
        "preferredName": "NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1062320[alleleid]",
        "alleleId": 1062320,
        "preferredName": "NM_001368894.2(PAX6):c.52G>A (p.Gly18Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289849",
        "RCV": [
          "RCV000317485",
          "RCV000635404",
          "RCV003401272"
        ],
        "variationId": 289849
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1075401",
        "RCV": [
          "RCV001388985"
        ],
        "variationId": 1075401
      }
    ]
  },
  "type": "amino-acid"
}