{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825752302",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1020,
          "referenceAllele": "P",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124450.1:p.Pro1020Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1706432",
          "hgvs": "NM_001130978.2:c.3059C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152619"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=268240[alleleid]",
        "alleleId": 268240,
        "preferredName": "NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/284003",
        "RCV": [
          "RCV000313635",
          "RCV000666376",
          "RCV000701610",
          "RCV002494839"
        ],
        "variationId": 284003
      }
    ]
  },
  "type": "amino-acid"
}