{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915999936",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 429,
          "referenceAllele": "V",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NP_001182727.1:p.Val429Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10576303",
          "hgvs": "NM_001195798.2:c.1285G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA10585386",
          "hgvs": "NM_001195798.2:c.1285G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=228166[alleleid]",
        "alleleId": 228166,
        "preferredName": "NM_000527.5(LDLR):c.1285G>C (p.Val429Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=246081[alleleid]",
        "alleleId": 246081,
        "preferredName": "NM_000527.5(LDLR):c.1285G>T (p.Val429Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/226353",
        "RCV": [
          "RCV000211588"
        ],
        "variationId": 226353
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/251767",
        "RCV": [
          "RCV000238117",
          "RCV002519847"
        ],
        "variationId": 251767
      }
    ]
  },
  "type": "amino-acid"
}