HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001166969.1:p.[Ala506_Ala507delinsArg;Phe509_Gly518delinsAlaSer;Lys520_Leu527delinsSerSerPheIleIle;Val529_Glu531delinsTrpGly;Val533_Val535delinsArg] |
CA2695228122
NM_001173498.2:c.1516del
|