{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2742013374",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 86,
          "referenceAllele": "Q",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028596",
      "geneNCBI_id": 148789,
      "geneSymbol": "B3GALNT2",
      "hgvs": [
        "NP_689703.1:p.Gln86Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA344930753",
          "hgvs": "NM_152490.5:c.257A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182441"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3058218[alleleid]",
        "alleleId": 3058218,
        "preferredName": "NM_152490.5(B3GALNT2):c.257A>C (p.Gln86Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2902622",
        "RCV": [
          "RCV003737323"
        ],
        "variationId": 2902622
      }
    ]
  },
  "type": "amino-acid"
}