{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580234818",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "V",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NP_001361618.1:p.Val202Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5293388",
          "hgvs": "NM_001374689.1:c.605T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708573"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1691002[alleleid]",
        "alleleId": 1691002,
        "preferredName": "NM_001077365.2(POMT1):c.699+68T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1698626",
        "RCV": [
          "RCV002271903",
          "RCV003464426",
          "RCV003774862",
          "RCV004017915"
        ],
        "variationId": 1698626
      }
    ]
  },
  "type": "amino-acid"
}