{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580305413",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 806,
          "referenceAllele": "N",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011290",
      "geneNCBI_id": 6721,
      "geneSymbol": "SREBF2",
      "hgvs": [
        "NP_004590.2:p.Asn806Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10261948",
          "hgvs": "NM_004599.4:c.2418C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA411765006",
          "hgvs": "NM_004599.4:c.2418C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170296"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2203009[alleleid]",
        "alleleId": 2203009,
        "preferredName": "NM_004599.4(SREBF2):c.2418C>G (p.Asn806Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2204430",
        "RCV": [
          "RCV004069263"
        ],
        "variationId": 2204430
      }
    ]
  },
  "type": "amino-acid"
}