{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828473417",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 113,
          "referenceAllele": "L",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NP_001361015.1:p.Leu113Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16617468",
          "hgvs": "NM_001374086.1:c.337C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708185"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=405616[alleleid]",
        "alleleId": 405616,
        "preferredName": "NM_001079866.2(BCS1L):c.838C>T (p.Leu280Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/423549",
        "RCV": [
          "RCV000480400"
        ],
        "variationId": 423549
      }
    ]
  },
  "type": "amino-acid"
}