{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057451595",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 484,
          "referenceAllele": "H",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "NP_000543.3:p.His484Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6403396",
          "hgvs": "NM_000552.5:c.1451A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734749"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3731054[alleleid]",
        "alleleId": 3731054,
        "preferredName": "NM_000552.5(VWF):c.1451A>T (p.His484Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3572153",
        "RCV": [
          "RCV004997945"
        ],
        "variationId": 3572153
      }
    ]
  },
  "type": "amino-acid"
}