{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA123288",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 173,
          "referenceAllele": "K",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "NP_006199.2:p.Lys173Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123287",
          "hgvs": "NM_006208.3:c.517A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171769"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28628[alleleid]",
        "alleleId": 28628,
        "preferredName": "NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13589",
        "RCV": [
          "RCV000014558",
          "RCV000033192",
          "RCV000178259",
          "RCV000265863",
          "RCV000355961",
          "RCV001255136",
          "RCV001515718",
          "RCV001843453",
          "RCV002226648",
          "RCV001659696",
          "RCV004541005"
        ],
        "variationId": 13589
      }
    ]
  },
  "type": "amino-acid"
}