{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915956250",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 597,
          "referenceAllele": "P",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NP_000082.2:p.Pro597Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2146765",
          "hgvs": "NM_000091.5:c.1790C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146643"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=733239[alleleid]",
        "alleleId": 733239,
        "preferredName": "NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/729606",
        "RCV": [
          "RCV000904280",
          "RCV001253067",
          "RCV001274581",
          "RCV003958192",
          "RCV004028543"
        ],
        "variationId": 729606
      }
    ]
  },
  "type": "amino-acid"
}