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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000009.1:p.[Ala473del;Gln475_Gly481delinsCysArgAlaValTrpThr;Leu484Arg;Gly486Ser;Ser489_Ala490del;Lys492_Asn497del;Gly499_Leu501delinsVal] |
CA2695201235
NM_000018.4:c.1417del
|