{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573264682",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "referenceAllele": "Y",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023015",
      "geneNCBI_id": 54757,
      "geneSymbol": "FAM20A",
      "hgvs": [
        "NP_060035.2:p.Tyr253Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA400759444",
          "hgvs": "NM_017565.4:c.758A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175541"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1684280[alleleid]",
        "alleleId": 1684280,
        "preferredName": "NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1691824",
        "RCV": [
          "RCV002255775"
        ],
        "variationId": 1691824
      }
    ]
  },
  "type": "amino-acid"
}