{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826649322",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 854,
          "referenceAllele": "S",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NP_001269460.1:p.Ser854Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9908573",
          "hgvs": "NM_001282531.3:c.2561C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162485"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1192250[alleleid]",
        "alleleId": 1192250,
        "preferredName": "NM_001282531.3(ADNP):c.2561C>T (p.Ser854Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1200985",
        "RCV": [
          "RCV001566175",
          "RCV002458532",
          "RCV003136107"
        ],
        "variationId": 1200985
      }
    ]
  },
  "type": "amino-acid"
}