HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000482504.1:p.[Cys100_Gln110delinsProGlyLeuProAlaGluGluValPro;Met113_Asn120delinsGlyAspGluProGlyArgArgAla;Gln123Ala;Arg125_Gln129delinsAlaAlaLysHisSerProGly] |
CA2695197300
ENST00000617575.5:c.298_299del
|