HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000492011.1:p.[Arg229Pro;Val231_Gln233del;Phe235_Lys238delinsProPro;Ala240_Thr242del;Thr244_Cys253del;Gly255del;Phe257_Phe258del] |
CA2635067044
ENST00000639847.1:c.685dup
|