{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828298044",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35,
          "referenceAllele": "A",
          "start": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008620",
      "geneNCBI_id": 5080,
      "geneSymbol": "PAX6",
      "hgvs": [
        "NP_001355839.1:p.Ala35Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA379960119",
          "hgvs": "NM_001368910.2:c.103G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709723"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=461848[alleleid]",
        "alleleId": 461848,
        "preferredName": "NM_001368894.2(PAX6):c.3G>A (p.Met1Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/460461",
        "RCV": [
          "RCV000544207"
        ],
        "variationId": 460461
      }
    ]
  },
  "type": "amino-acid"
}