{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830355406",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1157,
          "referenceAllele": "S",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NP_775099.2:p.Ser1157Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2091728",
          "hgvs": "NM_173076.3:c.3470C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183278"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2894415[alleleid]",
        "alleleId": 2894415,
        "preferredName": "NM_173076.3(ABCA12):c.3470C>T (p.Ser1157Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2734378",
        "RCV": [
          "RCV003554990"
        ],
        "variationId": 2734378
      }
    ]
  },
  "type": "amino-acid"
}