{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA150987",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 356,
          "referenceAllele": "L",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NP_001135773.1:p.Leu356Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA150984",
          "hgvs": "NM_001142301.1:c.1066C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=131831[alleleid]",
        "alleleId": 131831,
        "preferredName": "NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/126299",
        "RCV": [
          "RCV000114242",
          "RCV000200297",
          "RCV001161604",
          "RCV001719853"
        ],
        "variationId": 126299
      }
    ]
  },
  "type": "amino-acid"
}