{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741869995",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 419,
          "referenceAllele": "V",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014294",
      "geneNCBI_id": 85358,
      "geneSymbol": "SHANK3",
      "hgvs": [
        "NP_001358973.1:p.Val419Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16044390",
          "hgvs": "NM_001372044.2:c.1255G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA515250770",
          "hgvs": "NM_001372044.2:c.1255G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706302"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362436[alleleid]",
        "alleleId": 362436,
        "preferredName": "NM_001372044.2(SHANK3):c.1255G>T (p.Val419Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375622",
        "RCV": [
          "RCV000417108"
        ],
        "variationId": 375622
      }
    ]
  },
  "type": "amino-acid"
}