{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916044317",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 79,
          "referenceAllele": "R",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002388",
      "geneNCBI_id": 1409,
      "geneSymbol": "CRYAA",
      "hgvs": [
        "NP_001350695.1:p.Arg79Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA410605796",
          "hgvs": "NM_001363766.1:c.235C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625904"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=512494[alleleid]",
        "alleleId": 512494,
        "preferredName": "NM_000394.4(CRYAA):c.346C>A (p.Arg116Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/521018",
        "RCV": [
          "RCV000623807",
          "RCV003457728"
        ],
        "variationId": 521018
      }
    ]
  },
  "type": "amino-acid"
}