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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000494438.1:p.[Arg308_Asn312del;Ser314_Asp318delinsLysLysGln;Asp320del;Glu322_Asp328del;Asp330_Glu331del;Ile333_Thr341del] |
CA2697549976
ENST00000647540.1:c.922dup
|