{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826580809",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 752,
          "referenceAllele": "V",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NP_001265045.1:p.Val752Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120881",
          "hgvs": "NM_001278116.2:c.2254G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161531"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25037[alleleid]",
        "alleleId": 25037,
        "preferredName": "NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9998",
        "RCV": [
          "RCV001794442",
          "RCV003151718",
          "RCV003588561"
        ],
        "variationId": 9998
      }
    ]
  },
  "type": "amino-acid"
}