{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573063334",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1374,
          "referenceAllele": "R",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "NP_000543.3:p.Arg1374His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA228541",
          "hgvs": "NM_000552.5:c.4121G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734749"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106207[alleleid]",
        "alleleId": 106207,
        "preferredName": "NM_000552.5(VWF):c.4121G>A (p.Arg1374His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100330",
        "RCV": [
          "RCV000086735",
          "RCV000626712",
          "RCV001093529",
          "RCV000851939",
          "RCV000852116",
          "RCV002264658"
        ],
        "variationId": 100330
      }
    ]
  },
  "type": "amino-acid"
}