{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580523195",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 62,
          "referenceAllele": "N",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028596",
      "geneNCBI_id": 148789,
      "geneSymbol": "B3GALNT2",
      "hgvs": [
        "NP_689703.1:p.Asn62Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA39587556",
          "hgvs": "NM_152490.5:c.185A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182441"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2409434[alleleid]",
        "alleleId": 2409434,
        "preferredName": "NM_152490.5(B3GALNT2):c.185A>G (p.Asn62Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2439455",
        "RCV": [
          "RCV003143724"
        ],
        "variationId": 2439455
      }
    ]
  },
  "type": "amino-acid"
}