{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580201251",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 111,
          "referenceAllele": "L",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002499",
      "geneNCBI_id": 1489,
      "geneSymbol": "CTF1",
      "hgvs": [
        "NP_001321.1:p.Leu111Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA395618871",
          "hgvs": "NM_001330.5:c.332T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167273"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1902145[alleleid]",
        "alleleId": 1902145,
        "preferredName": "NM_001330.5(CTF1):c.332T>C (p.Leu111Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2164314",
        "RCV": [
          "RCV003087970"
        ],
        "variationId": 2164314
      }
    ]
  },
  "type": "amino-acid"
}