{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741956678",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 50,
          "referenceAllele": "S",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "NP_056385.1:p.Ser50Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA367702947",
          "hgvs": "NM_015570.4:c.149C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174654"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3033100[alleleid]",
        "alleleId": 3033100,
        "preferredName": "NM_015570.4(AUTS2):c.149C>T (p.Ser50Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2876995",
        "RCV": [
          "RCV003712634"
        ],
        "variationId": 2876995
      }
    ]
  },
  "type": "amino-acid"
}