{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573072567",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1528,
          "referenceAllele": "P",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "NP_001358857.1:p.Pro1528Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA715330",
          "hgvs": "NM_001371928.1:c.4583C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708068"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1324523[alleleid]",
        "alleleId": 1324523,
        "preferredName": "NM_001371928.1(AHDC1):c.4583C>T (p.Pro1528Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1333753",
        "RCV": [
          "RCV001808968",
          "RCV002541477",
          "RCV004040930"
        ],
        "variationId": 1333753
      }
    ]
  },
  "type": "amino-acid"
}