{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825759790",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1660,
          "referenceAllele": "T",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124453.1:p.Thr1660Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1707202",
          "hgvs": "NM_001130981.2:c.4979C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152622"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274424[alleleid]",
        "alleleId": 274424,
        "preferredName": "NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290187",
        "RCV": [
          "RCV000348647",
          "RCV002494891",
          "RCV001833403",
          "RCV001240482"
        ],
        "variationId": 290187
      }
    ]
  },
  "type": "amino-acid"
}