{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916074544",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1654,
          "referenceAllele": "S",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "NP_997244.4:p.Ser1654Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6955107",
          "hgvs": "NM_207361.6:c.4960A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA387894254",
          "hgvs": "NM_207361.6:c.4962T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA387894255",
          "hgvs": "NM_207361.6:c.4962T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185982"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=688165[alleleid]",
        "alleleId": 688165,
        "preferredName": "NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/698110",
        "RCV": [
          "RCV000865326",
          "RCV001110583",
          "RCV002536271"
        ],
        "variationId": 698110
      }
    ]
  },
  "type": "amino-acid"
}