{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580572528",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 214,
          "referenceAllele": "P",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033816",
      "geneNCBI_id": 401498,
      "geneSymbol": "TMEM215",
      "hgvs": [
        "NP_997723.2:p.Pro214Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA193056074",
          "hgvs": "NM_212558.3:c.641C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS186091"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2379384[alleleid]",
        "alleleId": 2379384,
        "preferredName": "NM_212558.3(TMEM215):c.641C>T (p.Pro214Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2383330",
        "RCV": [
          "RCV004223839"
        ],
        "variationId": 2383330
      }
    ]
  },
  "type": "amino-acid"
}