HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000400259.2:p.[Arg348_Asn349del;Asn351_Asp353delinsGluThr;Val355_Pro371delinsThrGlyThrLeuSerAlaThrProValAlaSerThrThrSerCysThrMet;Met374_Glu377delinsGlyHis] |
CA2740090994
ENST00000430265.6:c.1040_1041dup
|