{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829813725",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 394,
          "referenceAllele": "L",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015766",
      "geneNCBI_id": 23394,
      "geneSymbol": "ADNP",
      "hgvs": [
        "NP_056154.1:p.Leu394Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA408974347",
          "hgvs": "NM_015339.5:c.1180C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174474"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1018707[alleleid]",
        "alleleId": 1018707,
        "preferredName": "NM_001282531.3(ADNP):c.1180C>G (p.Leu394Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1030496",
        "RCV": [
          "RCV001332063"
        ],
        "variationId": 1030496
      }
    ]
  },
  "type": "amino-acid"
}