{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA279457",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 696,
          "referenceAllele": "L",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NP_714915.3:p.Leu696Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA279453",
          "hgvs": "NM_153704.6:c.2086C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182992"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214287[alleleid]",
        "alleleId": 214287,
        "preferredName": "NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217729",
        "RCV": [
          "RCV000201654",
          "RCV001307480",
          "RCV001161723",
          "RCV001163244",
          "RCV001804938"
        ],
        "variationId": 217729
      }
    ]
  },
  "type": "amino-acid"
}