{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825758001",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2080,
          "referenceAllele": "F",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124452.1:p.Phe2080Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA347227440",
          "hgvs": "NM_001130980.2:c.6239T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3050934[alleleid]",
        "alleleId": 3050934,
        "preferredName": "NM_001130987.2(DYSF):c.6305T>G (p.Phe2102Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2886890",
        "RCV": [
          "RCV003735535"
        ],
        "variationId": 2886890
      }
    ]
  },
  "type": "amino-acid"
}