{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104050",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 334,
          "referenceAllele": "A",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NP_000266.2:p.Ala334Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA251637",
          "hgvs": "NM_000275.3:c.1001C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146822"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15997[alleleid]",
        "alleleId": 15997,
        "preferredName": "NM_000275.3(OCA2):c.1001C>T (p.Ala334Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/958",
        "RCV": [
          "RCV000001009",
          "RCV001851522",
          "RCV003466773"
        ],
        "variationId": 958
      }
    ]
  },
  "type": "amino-acid"
}