HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000367459.3:p.[Ala194_Pro206delinsGlyLeuGlnLeuLeuCysTrpArgGlnSerCysGly;Glu208_Gln211delinsSerGly;Pro213_Ser223delinsAlaAlaGlyPro] |
CA2832540776
ENST00000378214.7:c.580dup
|