{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580166805",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1313,
          "referenceAllele": "M",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022196",
      "geneNCBI_id": 23148,
      "geneSymbol": "NACAD",
      "hgvs": [
        "NP_001139806.1:p.Met1313Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA158010262",
          "hgvs": "NM_001146334.2:c.3937A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA367433854",
          "hgvs": "NM_001146334.2:c.3937A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154425"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2211560[alleleid]",
        "alleleId": 2211560,
        "preferredName": "NM_001146334.2(NACAD):c.3937A>C (p.Met1313Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2224253",
        "RCV": [
          "RCV004084466"
        ],
        "variationId": 2224253
      }
    ]
  },
  "type": "amino-acid"
}