{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA113517",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 1376,
          "referenceAllele": "L",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014673",
      "geneNCBI_id": 79443,
      "geneSymbol": "FYCO1",
      "hgvs": [
        "NP_078789.2:p.Leu1376Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA214979",
          "hgvs": "NM_024513.4:c.4127T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178311"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39606[alleleid]",
        "alleleId": 39606,
        "preferredName": "NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30649",
        "RCV": [
          "RCV000023624"
        ],
        "variationId": 30649
      }
    ]
  },
  "type": "amino-acid"
}