{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645379814",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 212,
          "referenceAllele": "LALSPL",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NP_000266.2:p.Leu207_Leu212del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7439405",
          "hgvs": "NM_000275.3:c.619_636del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146822"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360068[alleleid]",
        "alleleId": 360068,
        "preferredName": "NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372713",
        "RCV": [
          "RCV000413670",
          "RCV001797713",
          "RCV002480264",
          "RCV003418094",
          "RCV003463816"
        ],
        "variationId": 372713
      }
    ]
  },
  "type": "amino-acid"
}