{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102584",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 349,
          "referenceAllele": "L",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NP_714915.3:p.Leu349Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA144430",
          "hgvs": "NM_153704.6:c.1046T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182992"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71401[alleleid]",
        "alleleId": 71401,
        "preferredName": "NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56762",
        "RCV": [
          "RCV000050175",
          "RCV000114240",
          "RCV000201777",
          "RCV000560903",
          "RCV000778866",
          "RCV001267954",
          "RCV002477175"
        ],
        "variationId": 56762
      }
    ]
  },
  "type": "amino-acid"
}