{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA186169",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 115,
          "referenceAllele": "M",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011529",
      "geneNCBI_id": 4072,
      "geneSymbol": "EPCAM",
      "hgvs": [
        "NP_002345.2:p.Met115Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA186167",
          "hgvs": "NM_002354.3:c.344T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA338640",
          "hgvs": "NM_002354.3:c.344_345delinsCA"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2586964804",
          "hgvs": "NM_002354.3:c.344_345delinsCC"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3091214210",
          "hgvs": "NM_002354.3:c.344_345delinsCT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168210"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181861[alleleid]",
        "alleleId": 181861,
        "preferredName": "NM_002354.3(EPCAM):c.344T>C (p.Met115Thr)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212161[alleleid]",
        "alleleId": 212161,
        "preferredName": "NM_002354.3(EPCAM):c.344_345inv (p.Met115Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183700",
        "RCV": [
          "RCV000162369",
          "RCV000244202",
          "RCV000515609",
          "RCV001657909",
          "RCV001610467",
          "RCV003315971"
        ],
        "variationId": 183700
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/215500",
        "RCV": [
          "RCV000780224",
          "RCV002274939",
          "RCV003316098"
        ],
        "variationId": 215500
      }
    ]
  },
  "type": "amino-acid"
}