{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830351082",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 42,
          "referenceAllele": "R",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NP_758840.1:p.Arg42Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA390052504",
          "hgvs": "NM_172337.2:c.126G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA390052505",
          "hgvs": "NM_172337.2:c.126G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183239"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3222328[alleleid]",
        "alleleId": 3222328,
        "preferredName": "NM_021728.4(OTX2):c.150G>C (p.Arg50Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3062100",
        "RCV": [
          "RCV003985210"
        ],
        "variationId": 3062100
      }
    ]
  },
  "type": "amino-acid"
}