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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000373392.3:p.[Arg275_Asn279del;Ser281_Asp285delinsLysLysGln;Asp287del;Glu289_Asp295del;Asp297_Glu298del;Ile300_Thr308del] |
CA2697549976
ENST00000388740.4:c.823dup
|