{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096392",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 121,
          "referenceAllele": "H",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011831",
      "geneNCBI_id": 7084,
      "geneSymbol": "TK2",
      "hgvs": [
        "NP_004605.4:p.His121Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA320611",
          "hgvs": "NM_004614.5:c.361C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA343304",
          "hgvs": "NM_004614.5:c.360_361delinsAA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170309"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27747[alleleid]",
        "alleleId": 27747,
        "preferredName": "NM_004614.5(TK2):c.361C>A (p.His121Asn)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47589[alleleid]",
        "alleleId": 47589,
        "preferredName": "NM_004614.5(TK2):c.360_361delinsAA (p.His121Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12708",
        "RCV": [
          "RCV001386287",
          "RCV004526595",
          "RCV000013545"
        ],
        "variationId": 12708
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38986",
        "RCV": [
          "RCV001852644",
          "RCV003155045"
        ],
        "variationId": 38986
      }
    ]
  },
  "type": "amino-acid"
}