{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915998828",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 228,
          "referenceAllele": "E",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NP_001182727.1:p.Glu228Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA044313",
          "hgvs": "NM_001195798.2:c.682G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=245730[alleleid]",
        "alleleId": 245730,
        "preferredName": "NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/251393",
        "RCV": [
          "RCV000237530",
          "RCV000985770",
          "RCV000781498",
          "RCV002365242"
        ],
        "variationId": 251393
      }
    ]
  },
  "type": "amino-acid"
}