{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139680650",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1282,
          "referenceAllele": "R",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NP_001035203.1:p.Arg1282Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394859993",
          "hgvs": "NM_001040114.2:c.3845G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149988"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=874790[alleleid]",
        "alleleId": 874790,
        "preferredName": "NM_002474.3(MYH11):c.3824G>A (p.Arg1275Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/887027",
        "RCV": [
          "RCV001119523",
          "RCV004000247"
        ],
        "variationId": 887027
      }
    ]
  },
  "type": "amino-acid"
}