{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA119090",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 272,
          "referenceAllele": "T",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004125",
      "geneNCBI_id": 2591,
      "geneSymbol": "GALNT3",
      "hgvs": [
        "NP_004473.2:p.Thr272Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119089",
          "hgvs": "NM_004482.4:c.815C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170183"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22838[alleleid]",
        "alleleId": 22838,
        "preferredName": "NM_004482.4(GALNT3):c.815C>A (p.Thr272Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7799",
        "RCV": [
          "RCV000008242"
        ],
        "variationId": 7799
      }
    ]
  },
  "type": "amino-acid"
}