{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139696283",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 546,
          "referenceAllele": "P",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NP_000082.2:p.Pro546Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2146727",
          "hgvs": "NM_000091.5:c.1637C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146643"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=884022[alleleid]",
        "alleleId": 884022,
        "preferredName": "NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/897872",
        "RCV": [
          "RCV001141391",
          "RCV001724254",
          "RCV002070696"
        ],
        "variationId": 897872
      }
    ]
  },
  "type": "amino-acid"
}