HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000346391.3:p.Pro700_Ter701insArgGlyTrpAspHisProLeuArgAlaSerTrpAsnSerValProCysThrThrLeuTrpMetValTyrAspTrpMetAsnGlyPheLeuTyrMetGlyLeuCysGluCysMetCysValCysAspPhePhePheLysPheMetLeuArgLysGlyAsnHisLysValMetMetAsnCysLysHisProLysAspValArgValPheLeuCysIleMetPheTyrThrLeuPheAsnTrpLeuHisTyrPro |
CA340399464
ENST00000354412.7:c.2101T>C
CA340399466
ENST00000354412.7:c.2101T>A
|