{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825752283",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1008,
          "referenceAllele": "D",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124450.1:p.Asp1008His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA347216793",
          "hgvs": "NM_001130978.2:c.3022G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152619"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2412415[alleleid]",
        "alleleId": 2412415,
        "preferredName": "NM_001130987.2(DYSF):c.3076G>C (p.Asp1026His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2441128",
        "RCV": [
          "RCV003146957",
          "RCV003738374"
        ],
        "variationId": 2441128
      }
    ]
  },
  "type": "amino-acid"
}