{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA116841",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40,
          "referenceAllele": "C",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012605",
      "geneNCBI_id": 7401,
      "geneSymbol": "CLRN1",
      "hgvs": [
        "NP_001182723.1:p.Cys40Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116839",
          "hgvs": "NM_001195794.1:c.118T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157135"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19438[alleleid]",
        "alleleId": 19438,
        "preferredName": "NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4399",
        "RCV": [
          "RCV000004649",
          "RCV000414238",
          "RCV001075346",
          "RCV001273484",
          "RCV002468960",
          "RCV003466815"
        ],
        "variationId": 4399
      }
    ]
  },
  "type": "amino-acid"
}