HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000309.2:p.[Trp65_Val76delinsValGluIleHisHisLeuLeuGlnLysCysHisSer;Gln78_Ser79delinsThr;Leu81_Lys84delinsSerPheGlu;Lys86_Asn92del] |
CA2695201493
NM_000318.3:c.188dup
|