{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826956789",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 458,
          "referenceAllele": "D",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "NP_001303279.1:p.Asp458Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129915",
          "hgvs": "NM_001316350.2:c.1373A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167060"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44134[alleleid]",
        "alleleId": 44134,
        "preferredName": "NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/35465",
        "RCV": [
          "RCV000029140",
          "RCV000244403",
          "RCV000676053"
        ],
        "variationId": 35465
      }
    ]
  },
  "type": "amino-acid"
}