{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827860113",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 264,
          "referenceAllele": "N",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024290",
      "geneNCBI_id": 55790,
      "geneSymbol": "CSGALNACT1",
      "hgvs": [
        "NP_001341416.1:p.Asn264Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4654112",
          "hgvs": "NM_001354487.2:c.791A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS619260"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=980550[alleleid]",
        "alleleId": 980550,
        "preferredName": "NM_001354483.2(CSGALNACT1):c.791A>G (p.Asn264Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/992625",
        "RCV": [
          "RCV001281093"
        ],
        "variationId": 992625
      }
    ]
  },
  "type": "amino-acid"
}