HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000053867.2:p.[Leu354del;Asp356Gln;Gln358del;Leu360_Lys361del;Asp363_Val364del;Cys366_Ser371delinsThrSerLeuGluGluArg;Ser374_Gln380del;Thr382_Ser383del] |
CA2832528778
ENST00000053867.8:c.1054_1060dup
|