{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645508703",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 399,
          "referenceAllele": "T",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NP_054859.2:p.Thr399Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2097812",
          "hgvs": "NM_014140.4:c.1196C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173471"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=285337[alleleid]",
        "alleleId": 285337,
        "preferredName": "NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/334295",
        "RCV": [
          "RCV000302549",
          "RCV000594612",
          "RCV003912407"
        ],
        "variationId": 334295
      }
    ]
  },
  "type": "amino-acid"
}