{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829466474",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 921,
          "referenceAllele": "Y",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001497",
      "geneNCBI_id": 8573,
      "geneSymbol": "CASK",
      "hgvs": [
        "NP_003679.2:p.Tyr921Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10389961",
          "hgvs": "NM_003688.3:c.2762A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169458"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=951799[alleleid]",
        "alleleId": 951799,
        "preferredName": "NM_001367721.1(CASK):c.2777A>G (p.Tyr926Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/959257",
        "RCV": [
          "RCV001232567"
        ],
        "variationId": 959257
      }
    ]
  },
  "type": "amino-acid"
}