{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA260557",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 384,
          "referenceAllele": "L",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028472",
      "geneNCBI_id": 79188,
      "geneSymbol": "TMEM43",
      "hgvs": [
        "NP_077310.1:p.Leu384Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA024597",
          "hgvs": "NM_024334.3:c.1150C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178269"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45531[alleleid]",
        "alleleId": 45531,
        "preferredName": "NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36870",
        "RCV": [
          "RCV000030552",
          "RCV000699323",
          "RCV001185017",
          "RCV004017272"
        ],
        "variationId": 36870
      }
    ]
  },
  "type": "amino-acid"
}