{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102538",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 545,
          "referenceAllele": "G",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NP_714915.3:p.Gly545Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA251766",
          "hgvs": "NM_153704.6:c.1634G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2742038368",
          "hgvs": "NM_153704.6:c.[1634G>A;2241G>A]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182992"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16413[alleleid]",
        "alleleId": 16413,
        "preferredName": "NM_153704.6(TMEM67):c.1634G>A (p.Gly545Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1374",
        "RCV": [
          "RCV002512642"
        ],
        "variationId": 1374
      }
    ]
  },
  "type": "amino-acid"
}