HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000507979.1:p.[Lys214_Ala230delinsArgProThrArgProCysGlyMetProArgArgProArgLeuThrLeuPro;Val232_Val243delinsCysTrpSerTrpThrGlnProTrpArgLeuTrp] |
CA475509455
ENST00000683856.1:c.639del
|