{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA113436",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 358,
          "referenceAllele": "S",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028472",
      "geneNCBI_id": 79188,
      "geneSymbol": "TMEM43",
      "hgvs": [
        "NP_077310.1:p.Ser358Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA024568",
          "hgvs": "NM_024334.3:c.1073C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178269"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15773[alleleid]",
        "alleleId": 15773,
        "preferredName": "NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/734",
        "RCV": [
          "RCV000000770",
          "RCV000039375",
          "RCV000183944",
          "RCV000588763",
          "RCV000621202",
          "RCV001254741",
          "RCV001181315",
          "RCV001375655"
        ],
        "variationId": 734
      }
    ]
  },
  "type": "amino-acid"
}