{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499285254",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 152,
          "referenceAllele": "N",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NP_061764.2:p.Asn152Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4599267",
          "hgvs": "NM_018941.4:c.455A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176482"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1045433[alleleid]",
        "alleleId": 1045433,
        "preferredName": "NM_018941.4(CLN8):c.455A>G (p.Asn152Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1051820",
        "RCV": [
          "RCV001359907",
          "RCV002341751",
          "RCV001549577"
        ],
        "variationId": 1051820
      }
    ]
  },
  "type": "amino-acid"
}