{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA116700",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 448,
          "referenceAllele": "P",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NP_077277.1:p.Pro448Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116699",
          "hgvs": "NM_024301.5:c.1343C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178240"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19259[alleleid]",
        "alleleId": 19259,
        "preferredName": "NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4220",
        "RCV": [
          "RCV000360542",
          "RCV000763056",
          "RCV002226440",
          "RCV002381242",
          "RCV003466807",
          "RCV003591620"
        ],
        "variationId": 4220
      }
    ]
  },
  "type": "amino-acid"
}