HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_005336.3:p.[Thr495_Ile503delinsProArgThrArgAlaProAlaArgPro;Asn505_Gly508del;Leu510del;Lys512_Glu516delinsProSerProThrThr;Met518_Glu521delinsAla;Glu523_Lys524del] |
CA2678045961
NM_005345.6:c.1469_1482dup
|