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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000388189.1:p.[His72del;Gly74_Ser81delinsThrArgAlaSerTrpCysAla;Asn83_Cys86delinsThrAlaProThr;Val88_Leu89delinsSerAla;Thr91_Trp93delinsCysCysLeu;Cys95_Lys97delinsThrGlyAlaAla;Leu99Arg;Ile101delinsCysProSer] |
CA915940742
ENST00000455571.5:c.213_214dup
|