HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000377219.3:p.[Val164_Ser175delinsSerProArgArgThrAlaSerSerTrpProCysPro;Ala177_Val193delinsProThrLeuThrTrpProIleLeuThrProSerArgSerProArgArgTrp] |
CA590616778
ENST00000393594.7:c.490del
|