{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916000312",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 523,
          "referenceAllele": "V",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NP_001182727.1:p.Val523Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA034835",
          "hgvs": "NM_001195798.2:c.1567G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA10585504",
          "hgvs": "NM_001195798.2:c.1567G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=246213[alleleid]",
        "alleleId": 246213,
        "preferredName": "NM_000527.5(LDLR):c.1567G>T (p.Val523Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=981182[alleleid]",
        "alleleId": 981182,
        "preferredName": "NM_000527.5(LDLR):c.1567G>C (p.Val523Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/251900",
        "RCV": [
          "RCV000238520"
        ],
        "variationId": 251900
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/993226",
        "RCV": [
          "RCV001284640",
          "RCV003284137",
          "RCV003741255"
        ],
        "variationId": 993226
      }
    ]
  },
  "type": "amino-acid"
}