{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830364863",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 289,
          "referenceAllele": "L",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026912",
      "geneNCBI_id": 284339,
      "geneSymbol": "TMEM145",
      "hgvs": [
        "NP_775904.2:p.Leu289Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA406138462",
          "hgvs": "NM_173633.3:c.865C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183477"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2202561[alleleid]",
        "alleleId": 2202561,
        "preferredName": "NM_173633.3(TMEM145):c.865C>T (p.Leu289Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2216964",
        "RCV": [
          "RCV004080844"
        ],
        "variationId": 2216964
      }
    ]
  },
  "type": "amino-acid"
}