{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA225085",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 226,
          "referenceAllele": "L",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "NP_000012.1:p.Leu226Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA225084",
          "hgvs": "NM_000021.3:c.676C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146574"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103954[alleleid]",
        "alleleId": 103954,
        "preferredName": "NM_000021.4(PSEN1):c.676C>T (p.Leu226Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98062",
        "RCV": [
          "RCV000084349"
        ],
        "variationId": 98062
      }
    ]
  },
  "type": "amino-acid"
}