{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580192642",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 63,
          "referenceAllele": "M",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023573",
      "geneNCBI_id": 22880,
      "geneSymbol": "MORC2",
      "hgvs": [
        "NP_001290186.1:p.Met63Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA411246232",
          "hgvs": "NM_001303257.2:c.187A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165948"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1707499[alleleid]",
        "alleleId": 1707499,
        "preferredName": "NM_001303256.3(MORC2):c.187A>G (p.Met63Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1709145",
        "RCV": [
          "RCV002288429"
        ],
        "variationId": 1709145
      }
    ]
  },
  "type": "amino-acid"
}