{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828328697",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 280,
          "referenceAllele": "A",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NP_001356327.1:p.Ala280Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5184570",
          "hgvs": "NM_001369398.1:c.838G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708330"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=306494[alleleid]",
        "alleleId": 306494,
        "preferredName": "NM_005592.4(MUSK):c.2098G>A (p.Ala700Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/364613",
        "RCV": [
          "RCV000403675",
          "RCV002061309"
        ],
        "variationId": 364613
      }
    ]
  },
  "type": "amino-acid"
}