{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499263279",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 270,
          "referenceAllele": "E",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011185",
      "geneNCBI_id": 6653,
      "geneSymbol": "SORL1",
      "hgvs": [
        "NP_003096.2:p.Glu270Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6328480",
          "hgvs": "NM_003105.6:c.808G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2004892517",
          "hgvs": "NM_003105.6:c.807_808delinsCA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673946"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1199998[alleleid]",
        "alleleId": 1199998,
        "preferredName": "NM_003105.6(SORL1):c.808G>A (p.Glu270Lys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1358818[alleleid]",
        "alleleId": 1358818,
        "preferredName": "NM_003105.6(SORL1):c.807_808inv (p.Glu270Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1209973",
        "RCV": [
          "RCV001579640",
          "RCV003426179"
        ],
        "variationId": 1209973
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1441551",
        "RCV": [
          "RCV001979128"
        ],
        "variationId": 1441551
      }
    ]
  },
  "type": "amino-acid"
}