{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA221906",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 313,
          "referenceAllele": "K",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NP_001909.3:p.Lys313Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221905",
          "hgvs": "NM_001918.4:c.939G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA341336878",
          "hgvs": "NM_001918.4:c.939G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167801"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99919[alleleid]",
        "alleleId": 99919,
        "preferredName": "NM_001918.5(DBT):c.939G>C (p.Lys313Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/94017",
        "RCV": [
          "RCV000179839",
          "RCV000790732",
          "RCV001250158"
        ],
        "variationId": 94017
      }
    ]
  },
  "type": "amino-acid"
}