{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645434645",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 181,
          "referenceAllele": "A",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "NP_000083.3:p.Ala181Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2145634",
          "hgvs": "NM_000092.5:c.541G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146644"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=288403[alleleid]",
        "alleleId": 288403,
        "preferredName": "NM_000092.5(COL4A4):c.541G>T (p.Ala181Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/334737",
        "RCV": [
          "RCV000289981",
          "RCV000933181"
        ],
        "variationId": 334737
      }
    ]
  },
  "type": "amino-acid"
}