HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000387.1:p.[Ser143_Gly150delinsThrThrGlnGluGluAsnTrp;Leu152_Lys155del;Gly157Leu;Leu159_Ser163delinsSerGluSerProGlu;Gln165_Asn166delinsSerGly;Val168_Asp169del;Ser172_Gly180del] |
CA2586967419
NM_000396.4:c.428_450del
|