{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100016",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 175,
          "referenceAllele": "D",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NP_000518.1:p.Asp175Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA023713",
          "hgvs": "NM_000527.5:c.523G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147062"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18765[alleleid]",
        "alleleId": 18765,
        "preferredName": "NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3726",
        "RCV": [
          "RCV000003924",
          "RCV000775043",
          "RCV001090451",
          "RCV002336075"
        ],
        "variationId": 3726
      }
    ]
  },
  "type": "amino-acid"
}