{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828215177",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 50,
          "referenceAllele": "R",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NP_001353553.1:p.Arg50Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388306804",
          "hgvs": "NM_001366624.2:c.149G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS635835"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2092151[alleleid]",
        "alleleId": 2092151,
        "preferredName": "NM_006493.4(CLN5):c.149G>A (p.Arg50Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2043290",
        "RCV": [
          "RCV002908578"
        ],
        "variationId": 2043290
      }
    ]
  },
  "type": "amino-acid"
}