{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645386190",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 431,
          "referenceAllele": "V",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NP_005583.1:p.Val431Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5184320",
          "hgvs": "NM_005592.4:c.1291G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171215"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=306485[alleleid]",
        "alleleId": 306485,
        "preferredName": "NM_005592.4(MUSK):c.1291G>A (p.Val431Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/364608",
        "RCV": [
          "RCV000350489",
          "RCV002524580"
        ],
        "variationId": 364608
      }
    ]
  },
  "type": "amino-acid"
}