{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825388212",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 152,
          "referenceAllele": "S",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NP_001034974.1:p.Ser152Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9532153",
          "hgvs": "NM_001039885.3:c.456C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA406495358",
          "hgvs": "NM_001039885.3:c.454A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA406495364",
          "hgvs": "NM_001039885.3:c.456C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149934"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273802[alleleid]",
        "alleleId": 273802,
        "preferredName": "NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289565",
        "RCV": [
          "RCV000408156",
          "RCV000464325",
          "RCV000765452",
          "RCV000710136",
          "RCV001275311",
          "RCV002338856",
          "RCV003224253"
        ],
        "variationId": 289565
      }
    ]
  },
  "type": "amino-acid"
}