{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645386203",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 508,
          "referenceAllele": "V",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NP_005583.1:p.Val508Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5184382",
          "hgvs": "NM_005592.4:c.1522G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171215"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=316383[alleleid]",
        "alleleId": 316383,
        "preferredName": "NM_005592.4(MUSK):c.1522G>A (p.Val508Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/364610",
        "RCV": [
          "RCV000296540",
          "RCV002058765",
          "RCV003129852"
        ],
        "variationId": 364610
      }
    ]
  },
  "type": "amino-acid"
}