{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA105233",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 290,
          "referenceAllele": "S",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007045",
      "geneNCBI_id": 4247,
      "geneSymbol": "MGAT2",
      "hgvs": [
        "NP_002399.1:p.Ser290Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254036",
          "hgvs": "NM_002408.4:c.869C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168260"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22028[alleleid]",
        "alleleId": 22028,
        "preferredName": "NM_002408.3(MGAT2):c.869C>T (p.Ser290Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6989",
        "RCV": [
          "RCV000007405"
        ],
        "variationId": 6989
      }
    ]
  },
  "type": "amino-acid"
}