{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827396902",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 231,
          "referenceAllele": "L",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026269",
      "geneNCBI_id": 80021,
      "geneSymbol": "TMEM62",
      "hgvs": [
        "NP_001333953.1:p.Leu231Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA392087809",
          "hgvs": "NM_001347024.1:c.691C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS647184"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2242558[alleleid]",
        "alleleId": 2242558,
        "preferredName": "NM_024956.4(TMEM62):c.1306C>T (p.Leu436Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2251412",
        "RCV": [
          "RCV004113626"
        ],
        "variationId": 2251412
      }
    ]
  },
  "type": "amino-acid"
}