{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825388077",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 69,
          "referenceAllele": "S",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NP_001034974.1:p.Ser69Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA309099225",
          "hgvs": "NM_001039885.3:c.205T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149934"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=998659[alleleid]",
        "alleleId": 998659,
        "preferredName": "NM_024301.5(FKRP):c.205T>C (p.Ser69Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/999725",
        "RCV": [
          "RCV001295759",
          "RCV001830129",
          "RCV002493553",
          "RCV002418887"
        ],
        "variationId": 999725
      }
    ]
  },
  "type": "amino-acid"
}