{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA343120",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1639,
          "referenceAllele": "C",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "NP_001265003.1:p.Cys1639Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA343119",
          "hgvs": "NM_001278074.1:c.4916G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375458714",
          "hgvs": "NM_001278074.1:c.4915T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161525"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32224[alleleid]",
        "alleleId": 32224,
        "preferredName": "NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17185",
        "RCV": [
          "RCV000032107",
          "RCV001290029"
        ],
        "variationId": 17185
      }
    ]
  },
  "type": "amino-acid"
}