{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104399",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 679,
          "referenceAllele": "W",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NP_000266.2:p.Trp679Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA251639",
          "hgvs": "NM_000275.3:c.2037G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA391361073",
          "hgvs": "NM_000275.3:c.2037G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146822"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15999[alleleid]",
        "alleleId": 15999,
        "preferredName": "NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/960",
        "RCV": [
          "RCV000001011",
          "RCV001093225",
          "RCV001262139",
          "RCV003317027"
        ],
        "variationId": 960
      }
    ]
  },
  "type": "amino-acid"
}