{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826029300",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 704,
          "referenceAllele": "V",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NP_001159752.1:p.Val704Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA249734",
          "hgvs": "NM_001166280.2:c.2110G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155324"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23278[alleleid]",
        "alleleId": 23278,
        "preferredName": "NM_005592.4(MUSK):c.2368G>A (p.Val790Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8239",
        "RCV": [
          "RCV000008722",
          "RCV000520620",
          "RCV000701593",
          "RCV001329438",
          "RCV003492289"
        ],
        "variationId": 8239
      }
    ]
  },
  "type": "amino-acid"
}