{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826649559",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 205,
          "referenceAllele": "L",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NP_001269461.1:p.Leu205Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9908858",
          "hgvs": "NM_001282532.2:c.613C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162486"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2414563[alleleid]",
        "alleleId": 2414563,
        "preferredName": "NM_001282531.3(ADNP):c.613C>G (p.Leu205Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2438881",
        "RCV": [
          "RCV003141216",
          "RCV003708729"
        ],
        "variationId": 2438881
      }
    ]
  },
  "type": "amino-acid"
}