{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645486184",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1647,
          "referenceAllele": "P",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NP_006653.2:p.Pro1647Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8011861",
          "hgvs": "NM_006662.3:c.4940C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172193"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=342704[alleleid]",
        "alleleId": 342704,
        "preferredName": "NM_006662.3(SRCAP):c.4940C>T (p.Pro1647Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/318883",
        "RCV": [
          "RCV000592924",
          "RCV002522842"
        ],
        "variationId": 318883
      }
    ]
  },
  "type": "amino-acid"
}