{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825750965",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1842,
          "referenceAllele": "M",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124449.1:p.Met1842Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA347223040",
          "hgvs": "NM_001130977.2:c.5524A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152618"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=492102[alleleid]",
        "alleleId": 492102,
        "preferredName": "NM_001130987.2(DYSF):c.5620A>G (p.Met1874Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/500678",
        "RCV": [
          "RCV000593308",
          "RCV003231652"
        ],
        "variationId": 500678
      }
    ]
  },
  "type": "amino-acid"
}