HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000479.1:p.[Leu383_Val387delinsSerGlnValLeuLeuGlnLys;Gly390_Phe400delinsMetThrSerMetSerGlnMetHisSerIleArg;Lys402_Ala403del;Glu406_Ser412delinsArg] |
CA2586964401
NM_000488.4:c.1147del
|