{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825629772",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 321,
          "referenceAllele": "G",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NP_001120679.1:p.Gly321Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA246129",
          "hgvs": "NM_001127207.2:c.962G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152018"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194958[alleleid]",
        "alleleId": 194958,
        "preferredName": "NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197797",
        "RCV": [
          "RCV000178929",
          "RCV001080195",
          "RCV003907622",
          "RCV004020134"
        ],
        "variationId": 197797
      }
    ]
  },
  "type": "amino-acid"
}