HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_004351.1:p.[Arg43_Gly49delinsProAlaProProGlyGlu;Val51_Gly53delinsPro;Val55_Thr61delinsPro;Arg63del;Arg65_Tyr68delinsSerGlu;Ser70_Asp72del] |
CA2580091863
NM_004360.5:c.127dup
|