{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA108103",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 538,
          "referenceAllele": "D",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "NP_006199.2:p.Asp538His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA259671",
          "hgvs": "NM_006208.3:c.1612G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171769"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38798[alleleid]",
        "alleleId": 38798,
        "preferredName": "NM_006208.3(ENPP1):c.1612G>C (p.Asp538His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29843",
        "RCV": [
          "RCV000022721"
        ],
        "variationId": 29843
      }
    ]
  },
  "type": "amino-acid"
}