{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916002232",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 353,
          "referenceAllele": "H",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NP_005583.1:p.His353Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5184268",
          "hgvs": "NM_005592.4:c.1057C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171215"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=637626[alleleid]",
        "alleleId": 637626,
        "preferredName": "NM_005592.4(MUSK):c.1057C>A (p.His353Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/659137",
        "RCV": [
          "RCV000816090",
          "RCV003132089"
        ],
        "variationId": 659137
      }
    ]
  },
  "type": "amino-acid"
}