HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000046.1:p.[Leu334Tyr;Glu336Asn;Gly338_Phe340delinsAspAsnLeu;Thr343_Asn350delinsProArgPheTrpTrpValLeuIle;Asp352_Glu353delinsMetLys;Thr355_Ala356delinsGlnLeu;Leu358_Pro363del] |
CA2668431697
NM_000055.4:c.1001del
|