HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001365399.1:p.[Val425Gly;Gln427_Lys439delinsThrLysAsnTrpIleTrpIleIleTrpAsnSerLeuGln;Trp442_Asp445del;Val448_Thr454delinsTrp] |
CA2580077584
NM_001378470.1:c.1273dup
|