{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104343",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 736,
          "referenceAllele": "S",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NP_000266.2:p.Ser736Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA242025",
          "hgvs": "NM_000275.3:c.2207C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146822"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192718[alleleid]",
        "alleleId": 192718,
        "preferredName": "NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195557",
        "RCV": [
          "RCV000176150",
          "RCV000192656",
          "RCV000724171",
          "RCV003407649",
          "RCV003468858"
        ],
        "variationId": 195557
      }
    ]
  },
  "type": "amino-acid"
}