HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000364802.5:p.[Thr495_Ile503delinsProArgThrArgAlaProAlaArgPro;Asn505_Gly508del;Leu510del;Lys512_Glu516delinsProSerProThrThr;Met518_Glu521delinsAla;Glu523_Lys524del] |
CA2678045961
ENST00000375651.7:c.1469_1482dup
|