{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915999755",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 401,
          "referenceAllele": "L",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NP_001182727.1:p.Leu401His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA023433",
          "hgvs": "NM_001195798.2:c.1202T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18774[alleleid]",
        "alleleId": 18774,
        "preferredName": "NM_000527.5(LDLR):c.1202T>A (p.Leu401His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3735",
        "RCV": [
          "RCV000003933",
          "RCV001220262",
          "RCV002345226"
        ],
        "variationId": 3735
      }
    ]
  },
  "type": "amino-acid"
}