{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104154",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 489,
          "referenceAllele": "N",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NP_000266.2:p.Asn489Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA251640",
          "hgvs": "NM_000275.3:c.1465A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146822"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16000[alleleid]",
        "alleleId": 16000,
        "preferredName": "NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/961",
        "RCV": [
          "RCV000001012",
          "RCV000413429",
          "RCV000762940",
          "RCV003466774",
          "RCV003421891",
          "RCV003492280"
        ],
        "variationId": 961
      }
    ]
  },
  "type": "amino-acid"
}