{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916001380",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 828,
          "referenceAllele": "Y",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NP_001182727.1:p.Tyr828Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10576335",
          "hgvs": "NM_001195798.2:c.2483A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=228207[alleleid]",
        "alleleId": 228207,
        "preferredName": "NM_000527.5(LDLR):c.2483A>C (p.Tyr828Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/226395",
        "RCV": [
          "RCV000211561"
        ],
        "variationId": 226395
      }
    ]
  },
  "type": "amino-acid"
}