{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645453437",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 110,
          "referenceAllele": "R",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NP_077277.1:p.Arg110Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9532143",
          "hgvs": "NM_024301.5:c.328C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178240"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=403314[alleleid]",
        "alleleId": 403314,
        "preferredName": "NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/408718",
        "RCV": [
          "RCV000459145",
          "RCV000765451",
          "RCV000991999",
          "RCV001272539",
          "RCV002446816",
          "RCV003463910"
        ],
        "variationId": 408718
      }
    ]
  },
  "type": "amino-acid"
}