{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA238908",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 18,
          "referenceAllele": "A",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NP_060352.1:p.Ala18Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA238907",
          "hgvs": "NM_017882.3:c.53C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175803"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=190553[alleleid]",
        "alleleId": 190553,
        "preferredName": "NM_017882.3(CLN6):c.53C>T (p.Ala18Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/193389",
        "RCV": [
          "RCV000187111",
          "RCV000515438",
          "RCV000766779",
          "RCV001085594",
          "RCV002313023",
          "RCV003917602"
        ],
        "variationId": 193389
      }
    ]
  },
  "type": "amino-acid"
}