{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916074441",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 417,
          "referenceAllele": "L",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "NP_997244.4:p.Leu417Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6954373",
          "hgvs": "NM_207361.6:c.1250T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185982"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=739048[alleleid]",
        "alleleId": 739048,
        "preferredName": "NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/729329",
        "RCV": [
          "RCV000903964",
          "RCV001113631"
        ],
        "variationId": 729329
      }
    ]
  },
  "type": "amino-acid"
}