{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA250615",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 161,
          "referenceAllele": "F",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009210",
      "geneNCBI_id": 5449,
      "geneSymbol": "POU1F1",
      "hgvs": [
        "NP_001116229.1:p.Phe161Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA250614",
          "hgvs": "NM_001122757.3:c.482T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151875"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28647[alleleid]",
        "alleleId": 28647,
        "preferredName": "NM_000306.4(POU1F1):c.404T>G (p.Phe135Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13608",
        "RCV": [
          "RCV000014578"
        ],
        "variationId": 13608
      }
    ]
  },
  "type": "amino-acid"
}