{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645445969",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025419",
      "geneNCBI_id": 200894,
      "geneSymbol": "ARL13B",
      "hgvs": [
        "NP_878899.1:p.Gly384Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2504290",
          "hgvs": "NM_182896.3:c.1151G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184667"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=293112[alleleid]",
        "alleleId": 293112,
        "preferredName": "NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/346913",
        "RCV": [
          "RCV000764518",
          "RCV001705515",
          "RCV003912464"
        ],
        "variationId": 346913
      }
    ]
  },
  "type": "amino-acid"
}