{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580333798",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 558,
          "referenceAllele": "P",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NP_005583.1:p.Pro558Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5184422",
          "hgvs": "NM_005592.4:c.1673C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171215"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2415687[alleleid]",
        "alleleId": 2415687,
        "preferredName": "NM_005592.4(MUSK):c.1673C>T (p.Pro558Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2441973",
        "RCV": [
          "RCV003148293"
        ],
        "variationId": 2441973
      }
    ]
  },
  "type": "amino-acid"
}