{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826857348",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 719,
          "referenceAllele": "P",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NP_001287913.1:p.Pro719Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA251635",
          "hgvs": "NM_001300984.2:c.2156C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165488"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15995[alleleid]",
        "alleleId": 15995,
        "preferredName": "NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/956",
        "RCV": [
          "RCV000001007",
          "RCV000481371",
          "RCV000755092",
          "RCV000762938",
          "RCV003460401"
        ],
        "variationId": 956
      }
    ]
  },
  "type": "amino-acid"
}