{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825767720",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1232,
          "referenceAllele": "P",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124457.1:p.Pro1232Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1706667",
          "hgvs": "NM_001130985.2:c.3695C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152626"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=443289[alleleid]",
        "alleleId": 443289,
        "preferredName": "NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/452908",
        "RCV": [
          "RCV000765698",
          "RCV000727399",
          "RCV001485096",
          "RCV001563734",
          "RCV001563735",
          "RCV001272834"
        ],
        "variationId": 452908
      }
    ]
  },
  "type": "amino-acid"
}