{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826112100",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 367,
          "referenceAllele": "S",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006654",
      "geneNCBI_id": 4010,
      "geneSymbol": "LMX1B",
      "hgvs": [
        "NP_001167618.1:p.Ser367Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA374916182",
          "hgvs": "NM_001174147.2:c.1100G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156161"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3227162[alleleid]",
        "alleleId": 3227162,
        "preferredName": "NM_001174147.2(LMX1B):c.1100G>A (p.Ser367Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3067825",
        "RCV": [
          "RCV003993513"
        ],
        "variationId": 3067825
      }
    ]
  },
  "type": "amino-acid"
}