{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825388634",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 393,
          "referenceAllele": "V",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NP_001034974.1:p.Val393Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA205982",
          "hgvs": "NM_001039885.3:c.1177G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149934"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=141083[alleleid]",
        "alleleId": 141083,
        "preferredName": "NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/137380",
        "RCV": [
          "RCV000456138",
          "RCV000192864",
          "RCV001275320",
          "RCV001093246",
          "RCV002336274",
          "RCV004530080"
        ],
        "variationId": 137380
      }
    ]
  },
  "type": "amino-acid"
}