{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828448780",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 129,
          "referenceAllele": "F",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NP_001357681.1:p.Phe129Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278206",
          "hgvs": "NM_001370752.1:c.385T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351605821",
          "hgvs": "NM_001370752.1:c.387C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351605827",
          "hgvs": "NM_001370752.1:c.387C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708153"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=36345[alleleid]",
        "alleleId": 36345,
        "preferredName": "NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/25007",
        "RCV": [
          "RCV000021926"
        ],
        "variationId": 25007
      }
    ]
  },
  "type": "amino-acid"
}