{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139763629",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 108,
          "referenceAllele": "L",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NP_077277.1:p.Leu108Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA309099247",
          "hgvs": "NM_024301.5:c.323T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178240"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=847771[alleleid]",
        "alleleId": 847771,
        "preferredName": "NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/857909",
        "RCV": [
          "RCV001063677",
          "RCV001275309",
          "RCV001336095",
          "RCV002320323",
          "RCV002462309"
        ],
        "variationId": 857909
      }
    ]
  },
  "type": "amino-acid"
}