HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000539.2:p.[Glu1442Arg;Pro1444Ser;Pro1446_Ser1449delinsAlaPheGlnLeu;Arg1451_Arg1457delinsProLeuAlaGlnTrpProProAla;Gly1460_Ala1467delinsLeuHisHisLeuArgLeuGly;Ser1469_Arg1471delinsIleThrGln] |
CA020272
NM_000548.5:c.4323dup
|