{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA094014",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 276,
          "referenceAllele": "L",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NP_001034974.1:p.Leu276Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116701",
          "hgvs": "NM_001039885.3:c.826C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149934"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19260[alleleid]",
        "alleleId": 19260,
        "preferredName": "NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4221",
        "RCV": [
          "RCV000004442",
          "RCV000082182",
          "RCV000231711",
          "RCV000503787",
          "RCV000515332",
          "RCV000626960",
          "RCV000612115",
          "RCV000660622",
          "RCV001197775",
          "RCV001329320",
          "RCV001526640",
          "RCV002222338",
          "RCV002408451",
          "RCV003993736",
          "RCV004532287"
        ],
        "variationId": 4221
      }
    ]
  },
  "type": "amino-acid"
}