{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825388376",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "A",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NP_001034974.1:p.Ala249Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9532196",
          "hgvs": "NM_001039885.3:c.745G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149934"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=938733[alleleid]",
        "alleleId": 938733,
        "preferredName": "NM_024301.5(FKRP):c.745G>A (p.Ala249Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/939050",
        "RCV": [
          "RCV001208376",
          "RCV001833831",
          "RCV003145380",
          "RCV004033726"
        ],
        "variationId": 939050
      }
    ]
  },
  "type": "amino-acid"
}