HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000369.3:p.[Ala172_Tyr177delinsProGluProValAlaThr;Phe180_Pro184delinsSerValLeuLeuArg;Ser186_Gln187del;Ser189_Gln192delinsArgArgHisPro;Met195delinsProGlyCys;Pro197_Ala199delinsLeuThrArg;Tyr201del] |
CA473571504
NM_000378.4:c.513del
|