{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829466313",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 437,
          "referenceAllele": "T",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_003485.1:p.Thr437Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1705730",
          "hgvs": "NM_003494.4:c.1310C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169276"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=587069[alleleid]",
        "alleleId": 587069,
        "preferredName": "NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/596008",
        "RCV": [
          "RCV000731709",
          "RCV000802202",
          "RCV001830617",
          "RCV002535234"
        ],
        "variationId": 596008
      }
    ]
  },
  "type": "amino-acid"
}