{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827716497",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 314,
          "referenceAllele": "Y",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NP_001340128.2:p.Tyr314Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA375310006",
          "hgvs": "NM_001353199.2:c.941A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707930"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=946405[alleleid]",
        "alleleId": 946405,
        "preferredName": "NM_001077365.2(POMT1):c.1226A>G (p.Tyr409Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/961678",
        "RCV": [
          "RCV001235411"
        ],
        "variationId": 961678
      }
    ]
  },
  "type": "amino-acid"
}