{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916074432",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 199,
          "referenceAllele": "A",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "NP_997244.4:p.Ala199Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6954240",
          "hgvs": "NM_207361.6:c.595G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185982"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=693360[alleleid]",
        "alleleId": 693360,
        "preferredName": "NM_207361.6(FREM2):c.595G>T (p.Ala199Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/703000",
        "RCV": [
          "RCV000872372",
          "RCV001111820",
          "RCV003908282"
        ],
        "variationId": 703000
      }
    ]
  },
  "type": "amino-acid"
}