{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA157133",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1691,
          "referenceAllele": "S",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Ser1691Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA157131",
          "hgvs": "NM_000051.4:c.5071A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382540574",
          "hgvs": "NM_000051.4:c.5073T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382540576",
          "hgvs": "NM_000051.4:c.5073T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132856[alleleid]",
        "alleleId": 132856,
        "preferredName": "NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1806014[alleleid]",
        "alleleId": 1806014,
        "preferredName": "NM_000051.4(ATM):c.5073T>G (p.Ser1691Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127399",
        "RCV": [
          "RCV000115204",
          "RCV000119119",
          "RCV000120143",
          "RCV000679127",
          "RCV001354566",
          "RCV001798318"
        ],
        "variationId": 127399
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1745168",
        "RCV": [
          "RCV002335846"
        ],
        "variationId": 1745168
      }
    ]
  },
  "type": "amino-acid"
}