HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000134.2:p.[Phe305_Ala308del;Lys311_Ala314delinsLeuSerLeu;Ala316_Ala320delinsArgIleAsnLeuLys;Val322_Glu323delinsTrpLeu;Ser325_Ser334delinsMetThrLeuTrpLeuSerSerValGluPro] |
CA2533282211
NM_000143.4:c.912_913insCCGAA
|