{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825181933",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 185,
          "referenceAllele": "N",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NP_000519.2:p.Asn185Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA404254794",
          "hgvs": "NM_000528.4:c.554A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147063"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1944613[alleleid]",
        "alleleId": 1944613,
        "preferredName": "NM_000528.4(MAN2B1):c.554A>G (p.Asn185Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2418718",
        "RCV": [
          "RCV003121467"
        ],
        "variationId": 2418718
      }
    ]
  },
  "type": "amino-acid"
}