{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA103430",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 116,
          "referenceAllele": "R",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002388",
      "geneNCBI_id": 1409,
      "geneSymbol": "CRYAA",
      "hgvs": [
        "NP_000385.1:p.Arg116Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA214969",
          "hgvs": "NM_000394.4:c.346C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146937"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31996[alleleid]",
        "alleleId": 31996,
        "preferredName": "NM_000394.4(CRYAA):c.346C>T (p.Arg116Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16957",
        "RCV": [
          "RCV000018469",
          "RCV001091467"
        ],
        "variationId": 16957
      }
    ]
  },
  "type": "amino-acid"
}