HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_077277.1:p.[Tyr465_Phe473delinsThrThrAlaAlaSerTrpSerSerSerSer;Val477_Asn480delinsSerSerArgThr;Gln482_Tyr483delinsSerThr;Asn485_Ser494delinsThrArgHisCys] |
CA2814595127
NM_024301.5:c.1391_1392dup
|