{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580571071",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 739,
          "referenceAllele": "R",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "NP_997244.4:p.Arg739His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6954570",
          "hgvs": "NM_207361.6:c.2216G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185982"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1917859[alleleid]",
        "alleleId": 1917859,
        "preferredName": "NM_207361.6(FREM2):c.2216G>A (p.Arg739His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2186514",
        "RCV": [
          "RCV002623288"
        ],
        "variationId": 2186514
      }
    ]
  },
  "type": "amino-acid"
}