{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828533972",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 314,
          "referenceAllele": "I",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NP_001361591.1:p.Ile314Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119038",
          "hgvs": "NM_001374662.1:c.941T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709503"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22794[alleleid]",
        "alleleId": 22794,
        "preferredName": "NM_000376.3(VDR):c.941T>G (p.Ile314Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7755",
        "RCV": [
          "RCV000008196",
          "RCV002512896"
        ],
        "variationId": 7755
      }
    ]
  },
  "type": "amino-acid"
}