{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA913194649",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 193,
          "referenceAllele": "N",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NP_006484.2:p.Asn193Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA302986",
          "hgvs": "NM_006493.4:c.579C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA388311204",
          "hgvs": "NM_006493.4:c.579C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS635838"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=140497[alleleid]",
        "alleleId": 140497,
        "preferredName": "NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/136794",
        "RCV": [
          "RCV000603044",
          "RCV000178274",
          "RCV000675521",
          "RCV001082459",
          "RCV002312551"
        ],
        "variationId": 136794
      }
    ]
  },
  "type": "amino-acid"
}