{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825344445",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1573,
          "referenceAllele": "A",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "NP_001025053.1:p.Ala1573Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA715292",
          "hgvs": "NM_001029882.3:c.4718C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149407"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1904379[alleleid]",
        "alleleId": 1904379,
        "preferredName": "NM_001371928.1(AHDC1):c.4718C>T (p.Ala1573Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2173017",
        "RCV": [
          "RCV002581699",
          "RCV003294519"
        ],
        "variationId": 2173017
      }
    ]
  },
  "type": "amino-acid"
}