{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916001431",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 68,
          "referenceAllele": "C",
          "start": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NP_001182728.1:p.Cys68Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA023694",
          "hgvs": "NM_001195799.2:c.203G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA404076224",
          "hgvs": "NM_001195799.2:c.202T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157138"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18782[alleleid]",
        "alleleId": 18782,
        "preferredName": "NM_000527.5(LDLR):c.326G>C (p.Cys109Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4812970[alleleid]",
        "alleleId": 4812970,
        "preferredName": "NM_000527.5(LDLR):c.325T>A (p.Cys109Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3743",
        "RCV": [
          "RCV000003941"
        ],
        "variationId": 3743
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4695160",
        "RCV": [
          "RCV006491263"
        ],
        "variationId": 4695160
      }
    ]
  },
  "type": "amino-acid"
}