{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645490479",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 148,
          "referenceAllele": "H",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009220",
      "geneNCBI_id": 5459,
      "geneSymbol": "POU4F3",
      "hgvs": [
        "NP_002691.1:p.His148Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3491134",
          "hgvs": "NM_002700.3:c.442C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168534"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=301693[alleleid]",
        "alleleId": 301693,
        "preferredName": "NM_002700.3(POU4F3):c.442C>T (p.His148Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/351381",
        "RCV": [
          "RCV000328484",
          "RCV002520329",
          "RCV001821076"
        ],
        "variationId": 351381
      }
    ]
  },
  "type": "amino-acid"
}