{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA354323",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 114,
          "referenceAllele": "A",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NP_001034974.1:p.Ala114Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA149248",
          "hgvs": "NM_001039885.3:c.341C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149934"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=102002[alleleid]",
        "alleleId": 102002,
        "preferredName": "NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/96108",
        "RCV": [
          "RCV000082175",
          "RCV000227473",
          "RCV000711662",
          "RCV000577971",
          "RCV001563824",
          "RCV001563823",
          "RCV002453409"
        ],
        "variationId": 96108
      }
    ]
  },
  "type": "amino-acid"
}