{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580534578",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 300,
          "referenceAllele": "Y",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NP_775099.2:p.Tyr300Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2092414",
          "hgvs": "NM_173076.3:c.899A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183278"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1688441[alleleid]",
        "alleleId": 1688441,
        "preferredName": "NM_173076.3(ABCA12):c.899A>G (p.Tyr300Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1696032",
        "RCV": [
          "RCV002266175",
          "RCV003774842"
        ],
        "variationId": 1696032
      }
    ]
  },
  "type": "amino-acid"
}