HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001365852.1:p.[Ala431_Pro432delinsValLeu;Ser434_Asn436delinsArgThrIle;Cys439_Asp449delinsValProLeuThrTrpThrThrHisProValIle;Thr451_Ala460delinsLeuHisPheGlnProTrpGlnLeuTrpLeu] |
CA2783541329
NM_001378923.1:c.1292del
|