{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826029310",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 717,
          "referenceAllele": "Y",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NP_001159752.1:p.Tyr717Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA198363795",
          "hgvs": "NM_001166280.2:c.2150A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155324"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=444333[alleleid]",
        "alleleId": 444333,
        "preferredName": "NM_005592.4(MUSK):c.2408A>G (p.Tyr803Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/452225",
        "RCV": [
          "RCV000524008",
          "RCV001858023"
        ],
        "variationId": 452225
      }
    ]
  },
  "type": "amino-acid"
}