{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA098508",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 264,
          "referenceAllele": "R",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "NP_000350.1:p.Arg264Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7131282",
          "hgvs": "NM_000359.3:c.791G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146903"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=329126[alleleid]",
        "alleleId": 329126,
        "preferredName": "NM_000359.3(TGM1):c.791G>A (p.Arg264Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/312984",
        "RCV": [
          "RCV000320209",
          "RCV001046072",
          "RCV003323509"
        ],
        "variationId": 312984
      }
    ]
  },
  "type": "amino-acid"
}