HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000329546.3:p.Pro444_Ter445insTyrProSerSerProGlyLeuTrpArgGluSerGlnGlyCysValGluLeuSerTrpHisGlnIleProTyrIleLeuLeuGlnLeuMetGly |
CA388787247
ENST00000346342.7:c.1335G>C
CA388787248
ENST00000346342.7:c.1335G>T
|