{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828374940",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 224,
          "referenceAllele": "F",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NP_001357014.1:p.Phe224Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA339795",
          "hgvs": "NM_001370085.1:c.670T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA407963344",
          "hgvs": "NM_001370085.1:c.672C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA407963345",
          "hgvs": "NM_001370085.1:c.672C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709367"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15181[alleleid]",
        "alleleId": 15181,
        "preferredName": "NM_033409.4(SLC52A3):c.670T>C (p.Phe224Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/142",
        "RCV": [
          "RCV000000165"
        ],
        "variationId": 142
      }
    ]
  },
  "type": "amino-acid"
}