HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000420781.2:p.[Asn1049_Pro1052del;Leu1054_Asn1055delinsGlnArg;Met1057_Pro1065delinsLysIle;Val1067Cys;Lys1069_Lys1078delinsAla] |
CA915950131
ENST00000489037.2:c.3146dup
|