{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828328674",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 231,
          "referenceAllele": "M",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NP_001356327.1:p.Met231Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5184539",
          "hgvs": "NM_001369398.1:c.691A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374477627",
          "hgvs": "NM_001369398.1:c.691A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708330"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=568408[alleleid]",
        "alleleId": 568408,
        "preferredName": "NM_005592.4(MUSK):c.1951A>C (p.Met651Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/570516",
        "RCV": [
          "RCV000691383",
          "RCV003133530"
        ],
        "variationId": 570516
      }
    ]
  },
  "type": "amino-acid"
}