HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000476181.1:p.[Phe541delinsSerValIleGluGlyValCysArg;Pro542_Ter543insValCysSerHisValAsnAlaArgIleCysValCysAlaArgLeuLeuVal] |
CA684425117
ENST00000400024.6:c.1620_1621del
|