HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Ser584_Asn591delinsTyrLeuLysHisArgCysGlnArg;Gly593_Leu599delinsGlnPro;Glu602_Ala606del;Pro608_Ser610del;Ala612_Phe614delinsGlyGly] |
CA2830773958
NM_000527.5:c.1751_1752del
|