{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826336496",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 629,
          "referenceAllele": "L",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NP_001230695.2:p.Leu629Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA833192",
          "hgvs": "NM_001243766.2:c.1885C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734890"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=824203[alleleid]",
        "alleleId": 824203,
        "preferredName": "NM_017739.4(POMGNT1):c.1911C>G (p.Pro637=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/856846",
        "RCV": [
          "RCV001062396",
          "RCV001827397"
        ],
        "variationId": 856846
      }
    ]
  },
  "type": "amino-acid"
}