{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA126308",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 654,
          "referenceAllele": "S",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003969",
      "geneNCBI_id": 2492,
      "geneSymbol": "FSHR",
      "hgvs": [
        "NP_852111.2:p.Ser654Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126306",
          "hgvs": "NM_181446.3:c.1961G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184219"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31286[alleleid]",
        "alleleId": 31286,
        "preferredName": "NM_000145.4(FSHR):c.2039G>A (p.Ser680Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16247",
        "RCV": [
          "RCV000017635",
          "RCV000252781",
          "RCV001711073",
          "RCV000316299"
        ],
        "variationId": 16247
      }
    ]
  },
  "type": "amino-acid"
}