{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828303569",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 126,
          "referenceAllele": "R",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NP_001355858.1:p.Arg126Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA379956542",
          "hgvs": "NM_001368929.2:c.378G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA379956543",
          "hgvs": "NM_001368929.2:c.378G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709763"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=976012[alleleid]",
        "alleleId": 976012,
        "preferredName": "NM_001368894.2(PAX6):c.828G>C (p.Arg276Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/988073",
        "RCV": [
          "RCV001269465"
        ],
        "variationId": 988073
      }
    ]
  },
  "type": "amino-acid"
}