HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_004399.2:p.[Val164_Ser175delinsSerProArgArgThrAlaSerSerTrpProCysPro;Ala177_Val193delinsProThrLeuThrTrpProIleLeuThrProSerArgSerProArgArgTrp] |
CA590616778
NM_004408.4:c.490del
|