{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826617357",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 412,
          "referenceAllele": "G",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003327",
      "geneNCBI_id": 2006,
      "geneSymbol": "ELN",
      "hgvs": [
        "NP_001265846.1:p.Gly412Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA282319",
          "hgvs": "NM_001278917.2:c.1234G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA16618559",
          "hgvs": "NM_001278917.2:c.1233_1234delinsCA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161996"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52751[alleleid]",
        "alleleId": 52751,
        "preferredName": "NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407253[alleleid]",
        "alleleId": 407253,
        "preferredName": "NM_000501.4(ELN):c.1263_1264inv (p.Gly422Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43582",
        "RCV": [
          "RCV000036524",
          "RCV000264113",
          "RCV000319237"
        ],
        "variationId": 43582
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/422996",
        "RCV": [
          "RCV000486869",
          "RCV002526645"
        ],
        "variationId": 422996
      }
    ]
  },
  "type": "amino-acid"
}