HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001018088.1:p.[Pro454dup;Pro457_Ser461delinsThrProAlaValPro;Ser463Pro;Leu465_Phe467delinsSer;Cys469_Ser471delinsAlaAlaPhe;Ala473_Ile477delinsMetProCysAsnGly;Gln479_Asp482delinsAlaLysAlaGluThr;Ile484Ser] |
CA2529241506
NM_001018078.2:c.1364del
|