{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658674958",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 13,
          "referenceAllele": "H",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "NP_001534.1:p.His13Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129115800",
          "hgvs": "NM_001543.5:c.39C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA361759766",
          "hgvs": "NM_001543.5:c.39C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167466"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=443730[alleleid]",
        "alleleId": 443730,
        "preferredName": "NM_001543.5(NDST1):c.39C>G (p.His13Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/452070",
        "RCV": [
          "RCV000519525",
          "RCV000678273"
        ],
        "variationId": 452070
      }
    ]
  },
  "type": "amino-acid"
}