{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915998807",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 227,
          "referenceAllele": "D",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NP_001182727.1:p.Asp227Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA023747",
          "hgvs": "NM_001195798.2:c.681C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA16609806",
          "hgvs": "NM_001195798.2:c.681C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18729[alleleid]",
        "alleleId": 18729,
        "preferredName": "NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=390613[alleleid]",
        "alleleId": 390613,
        "preferredName": "NM_000527.5(LDLR):c.681C>A (p.Asp227Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3690",
        "RCV": [
          "RCV000003876",
          "RCV000771320",
          "RCV001823092",
          "RCV002362555"
        ],
        "variationId": 3690
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/403632",
        "RCV": [
          "RCV000455843",
          "RCV002248667",
          "RCV002365580",
          "RCV003581665"
        ],
        "variationId": 403632
      }
    ]
  },
  "type": "amino-acid"
}