HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000499550.1:p.Pro708_Ter709insCysGlyTrpAspHisProLeuArgAlaSerTrpAsnSerValProCysThrThrLeuTrpMetValTyrAspTrpMetAsnGlyPheLeuTyrMetGlyLeuCysGluCysMetCysValCysAspPhePhePheLysPheMetLeuArgLysGlyAsnHisLysValMetMetAsnCysLysHisProLysAspValArgValPheLeuCysIleMetPheTyrThrLeuPheAsnTrpLeuHisTyrPro |
CA340399452
ENST00000658277.1:c.2127A>T
CA340399453
ENST00000658277.1:c.2127A>C
|