{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580368448",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 322,
          "referenceAllele": "L",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NP_054859.2:p.Leu322His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2097748",
          "hgvs": "NM_014140.4:c.965T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173471"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1710861[alleleid]",
        "alleleId": 1710861,
        "preferredName": "NM_014140.4(SMARCAL1):c.965T>A (p.Leu322His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1712387",
        "RCV": [
          "RCV002294642",
          "RCV003097855"
        ],
        "variationId": 1712387
      }
    ]
  },
  "type": "amino-acid"
}