HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_005546.2:p.[Cys130Ala;Pro132_Gln136delinsLeu;Val138_Gln142delinsAlaSerLysArg;Leu145Ser;Pro147_Gln157del;Val159_Arg160insSer] |
CA2036500973
NM_005555.4:c.387del
|