HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001365396.1:p.[Val462Gly;Gln464_Lys476delinsThrLysAsnTrpIleTrpIleIleTrpAsnSerLeuGln;Trp479_Asp482del;Val485_Thr491delinsTrp] |
CA2580077584
NM_001378467.1:c.1384dup
|