{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA197030",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1,
          "referenceAllele": "M",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Met1Leu"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=183067[alleleid]",
        "alleleId": 183067,
        "preferredName": "NM_000051.4(ATM):c.1A>C (p.Met1Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3307474[alleleid]",
        "alleleId": 3307474,
        "preferredName": "NM_000051.4(ATM):c.1A>T (p.Met1Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187213",
        "RCV": [
          "RCV000166918",
          "RCV000576648",
          "RCV004019993"
        ],
        "variationId": 187213
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3148226",
        "RCV": [
          "RCV004440130"
        ],
        "variationId": 3148226
      }
    ]
  },
  "type": "amino-acid"
}