{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA147768",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 189,
          "referenceAllele": "L",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_003485.1:p.Leu189Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA147767",
          "hgvs": "NM_003494.4:c.565C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169276"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=100243[alleleid]",
        "alleleId": 100243,
        "preferredName": "NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/94343",
        "RCV": [
          "RCV000080309",
          "RCV000373692",
          "RCV000316737",
          "RCV000546064",
          "RCV001273966",
          "RCV001795107"
        ],
        "variationId": 94343
      }
    ]
  },
  "type": "amino-acid"
}