{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915976624",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 230,
          "referenceAllele": "D",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NP_006484.2:p.Asp230Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252327",
          "hgvs": "NM_006493.4:c.688G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS635838"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17605[alleleid]",
        "alleleId": 17605,
        "preferredName": "NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2566",
        "RCV": [
          "RCV000002675",
          "RCV000989152"
        ],
        "variationId": 2566
      }
    ]
  },
  "type": "amino-acid"
}