{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499283894",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 256,
          "referenceAllele": "D",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NP_060352.1:p.Asp256Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7630475",
          "hgvs": "NM_017882.3:c.768C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392971989",
          "hgvs": "NM_017882.3:c.768C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175803"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1063398[alleleid]",
        "alleleId": 1063398,
        "preferredName": "NM_017882.3(CLN6):c.768C>G (p.Asp256Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1072427",
        "RCV": [
          "RCV001385144",
          "RCV001560278"
        ],
        "variationId": 1072427
      }
    ]
  },
  "type": "amino-acid"
}