{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573258218",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "K",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NP_054859.2:p.Lys647Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350502074",
          "hgvs": "NM_014140.4:c.1940A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173471"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1336651[alleleid]",
        "alleleId": 1336651,
        "preferredName": "NM_014140.4(SMARCAL1):c.1940A>C (p.Lys647Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1344879",
        "RCV": [
          "RCV001849881"
        ],
        "variationId": 1344879
      }
    ]
  },
  "type": "amino-acid"
}