HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001229329.1:p.[Ser117_Pro124delinsArgLeuProProSerGly;Cys126Leu;Lys128_Thr130delinsVal;Asn132_Phe141del;Asp144_Val147del] |
CA2673723657
NM_001242400.2:c.348del
|