HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000426252.2:p.[Ser185_Ala189delinsArgArgTrpSerGly;Pro191_Glu198delinsSerSerAlaSerTyrProSer;Asn200_Leu201del;Val203_Thr211delinsLysPheAlaCysGlyVal;Arg213_His214delinsGly] |
CA2697552080
ENST00000503591.2:c.554dup
|