{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828296310",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 78,
          "referenceAllele": "R",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NP_001355829.1:p.Arg78Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA379956893",
          "hgvs": "NM_001368900.2:c.234A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA379956894",
          "hgvs": "NM_001368900.2:c.234A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709698"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2058184[alleleid]",
        "alleleId": 2058184,
        "preferredName": "NM_001368894.2(PAX6):c.684A>T (p.Arg228Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2002824",
        "RCV": [
          "RCV002824883"
        ],
        "variationId": 2002824
      }
    ]
  },
  "type": "amino-acid"
}