{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829688919",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 414,
          "referenceAllele": "F",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NP_009228.2:p.Phe414Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA000918",
          "hgvs": "NM_007297.4:c.1240T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA000921",
          "hgvs": "NM_007297.4:c.1242T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA10599277",
          "hgvs": "NM_007297.4:c.1242T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172748"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=68894[alleleid]",
        "alleleId": 68894,
        "preferredName": "NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=68895[alleleid]",
        "alleleId": 68895,
        "preferredName": "NM_007294.4(BRCA1):c.1383T>A (p.Phe461Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/54227",
        "RCV": [
          "RCV000047448",
          "RCV000111599",
          "RCV000148411",
          "RCV000215677",
          "RCV000679681",
          "RCV000764125"
        ],
        "variationId": 54227
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/54228",
        "RCV": [
          "RCV000111600",
          "RCV000166450",
          "RCV000236219",
          "RCV001344736",
          "RCV001174669"
        ],
        "variationId": 54228
      }
    ]
  },
  "type": "amino-acid"
}