{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645502390",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1553,
          "referenceAllele": "P",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "NP_997244.4:p.Pro1553Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6955045",
          "hgvs": "NM_207361.6:c.4657C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185982"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=328175[alleleid]",
        "alleleId": 328175,
        "preferredName": "NM_207361.6(FREM2):c.4657C>G (p.Pro1553Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/311979",
        "RCV": [
          "RCV000376652",
          "RCV000928533",
          "RCV001252825"
        ],
        "variationId": 311979
      }
    ]
  },
  "type": "amino-acid"
}