{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499241023",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 103,
          "referenceAllele": "S",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NP_001166969.1:p.Ser103Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA404257150",
          "hgvs": "NM_001173498.2:c.308C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156072"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1064636[alleleid]",
        "alleleId": 1064636,
        "preferredName": "NM_000528.4(MAN2B1):c.308C>T (p.Ser103Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1076057",
        "RCV": [
          "RCV001389809"
        ],
        "variationId": 1076057
      }
    ]
  },
  "type": "amino-acid"
}