HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001339443.1:p.[Glu219Asn;Lys221_Ser228delinsAsnLysGlyGluAlaValProLeu;Ser230_Ala233delinsValSerLeuLeu;Asp235_Gly239delinsThrValThrGlyGlu;Gly241Ala;Val243_Leu248delinsLeuSerIleIleThr] |
CA2577486895
NM_001352514.2:c.654del
|