HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001121113.1:p.[Leu676del;Leu678_Ser684delinsPheArgGluThrTrpArgVal;Asp686_Arg687delinsThrGluAla;Phe689_Gly691delinsMetValSer;Thr694_Gln697delinsCysIle;Lys699Gly;Glu701_Glu704delinsGlySerSerLeu;Ile706Lys] |
CA913072631
NM_001127641.1:c.2027_2030del
|