{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825388370",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 247,
          "referenceAllele": "P",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NP_001034974.1:p.Pro247Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA234005",
          "hgvs": "NM_001039885.3:c.740C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149934"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177298[alleleid]",
        "alleleId": 177298,
        "preferredName": "NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/167071",
        "RCV": [
          "RCV000711665",
          "RCV001275315",
          "RCV001079526",
          "RCV002381484",
          "RCV004544393",
          "RCV003225033"
        ],
        "variationId": 167071
      }
    ]
  },
  "type": "amino-acid"
}