{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA111987",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 249,
          "referenceAllele": "A",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004221",
      "geneNCBI_id": 392255,
      "geneSymbol": "GDF6",
      "hgvs": [
        "NP_001001557.1:p.Ala249Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119555",
          "hgvs": "NM_001001557.4:c.746C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147567"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23410[alleleid]",
        "alleleId": 23410,
        "preferredName": "NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8371",
        "RCV": [
          "RCV000008876",
          "RCV000054424",
          "RCV000008877",
          "RCV000353571",
          "RCV000428033",
          "RCV000767010",
          "RCV001255226",
          "RCV001255227",
          "RCV001522988",
          "RCV003934812"
        ],
        "variationId": 8371
      }
    ]
  },
  "type": "amino-acid"
}