HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000824.1:p.[Pro1113del;Asp1115_Ile1120delinsGln;Gly1122_Phe1128delinsLeu;Leu1130_Phe1135delinsTyrArgTrp;Glu1137_Val1145del] |
CA974532217
NM_000833.5:c.3338_3342del
|