{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825762425",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 452,
          "referenceAllele": "M",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124455.1:p.Met452Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1705737",
          "hgvs": "NM_001130983.2:c.1354A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152624"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=266446[alleleid]",
        "alleleId": 266446,
        "preferredName": "NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/282209",
        "RCV": [
          "RCV000300999",
          "RCV000358093",
          "RCV000711546",
          "RCV001084088",
          "RCV001449924",
          "RCV001276725",
          "RCV001820812"
        ],
        "variationId": 282209
      }
    ]
  },
  "type": "amino-acid"
}