{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827858727",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 248,
          "referenceAllele": "I",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024290",
      "geneNCBI_id": 55790,
      "geneSymbol": "CSGALNACT1",
      "hgvs": [
        "NP_001341406.1:p.Ile248Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4654130",
          "hgvs": "NM_001354477.2:c.742A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS619294"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1928821[alleleid]",
        "alleleId": 1928821,
        "preferredName": "NM_001354483.2(CSGALNACT1):c.742A>G (p.Ile248Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2191851",
        "RCV": [
          "RCV003294560",
          "RCV002633024"
        ],
        "variationId": 2191851
      }
    ]
  },
  "type": "amino-acid"
}