{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139761746",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 248,
          "referenceAllele": "S",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NP_076493.1:p.Ser248Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10554513",
          "hgvs": "NM_024003.3:c.743C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178127"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=964901[alleleid]",
        "alleleId": 964901,
        "preferredName": "NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/976710",
        "RCV": [
          "RCV001254092",
          "RCV003588728"
        ],
        "variationId": 976710
      }
    ]
  },
  "type": "amino-acid"
}