{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573315377",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 217,
          "referenceAllele": "R",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012723",
      "geneNCBI_id": 30813,
      "geneSymbol": "VSX1",
      "hgvs": [
        "NP_955457.1:p.Arg217His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9793563",
          "hgvs": "NM_199425.3:c.650G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185460"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1676146[alleleid]",
        "alleleId": 1676146,
        "preferredName": "NM_014588.6(VSX1):c.627+23G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1684215",
        "RCV": [
          "RCV002245216"
        ],
        "variationId": 1684215
      }
    ]
  },
  "type": "amino-acid"
}