HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000181.2:p.[Glu250_Arg251del;Phe253Ser;Arg255_Glu258delinsLys;Gly260_Cys261delinsPro;Val263_Asp273del;Gln275_Thr279del;Gly281del] |
CA2695215841
NM_000190.4:c.741_748dup
|