{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA308514",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 345,
          "referenceAllele": "K",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006207",
      "geneNCBI_id": 3728,
      "geneSymbol": "JUP",
      "hgvs": [
        "NP_002221.1:p.Lys345Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA308511",
          "hgvs": "NM_002230.4:c.1035G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA399499263",
          "hgvs": "NM_002230.4:c.1035G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168100"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=165554[alleleid]",
        "alleleId": 165554,
        "preferredName": "NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/155802",
        "RCV": [
          "RCV000143904",
          "RCV000183495",
          "RCV000278374",
          "RCV000335744",
          "RCV000767065",
          "RCV000705144",
          "RCV002390299"
        ],
        "variationId": 155802
      }
    ]
  },
  "type": "amino-acid"
}