{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830357731",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 823,
          "referenceAllele": "L",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NP_852107.1:p.Leu823Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA408969395",
          "hgvs": "NM_181442.4:c.2468T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184217"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3227123[alleleid]",
        "alleleId": 3227123,
        "preferredName": "NM_001282531.3(ADNP):c.2468T>G (p.Leu823Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3067113",
        "RCV": [
          "RCV003991505"
        ],
        "variationId": 3067113
      }
    ]
  },
  "type": "amino-acid"
}