{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826847600",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 52,
          "referenceAllele": "G",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "NP_001284708.1:p.Gly52Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA579169",
          "hgvs": "NM_001297779.2:c.155G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165250"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431637[alleleid]",
        "alleleId": 431637,
        "preferredName": "NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/438132",
        "RCV": [
          "RCV000504653",
          "RCV001314168"
        ],
        "variationId": 438132
      }
    ]
  },
  "type": "amino-acid"
}