{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA250604",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 297,
          "referenceAllele": "R",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "NP_001116229.1:p.Arg297Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA250603",
          "hgvs": "NM_001122757.3:c.889C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151875"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28642[alleleid]",
        "alleleId": 28642,
        "preferredName": "NM_000306.4(POU1F1):c.811C>T (p.Arg271Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13603",
        "RCV": [
          "RCV000014573",
          "RCV000591288"
        ],
        "variationId": 13603
      }
    ]
  },
  "type": "amino-acid"
}