{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA108161",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 579,
          "referenceAllele": "L",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "NP_006199.2:p.Leu579Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256905",
          "hgvs": "NM_006208.3:c.1737G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA365651814",
          "hgvs": "NM_006208.3:c.1737G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171769"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28627[alleleid]",
        "alleleId": 28627,
        "preferredName": "NM_006208.3(ENPP1):c.1737G>C (p.Leu579Phe)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3812072[alleleid]",
        "alleleId": 3812072,
        "preferredName": "NM_006208.3(ENPP1):c.1737G>T (p.Leu579Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13588",
        "RCV": [
          "RCV000014557"
        ],
        "variationId": 13588
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3683346",
        "RCV": [
          "RCV005163725"
        ],
        "variationId": 3683346
      }
    ]
  },
  "type": "amino-acid"
}