HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000228.1:p.[Lys129_Asn140delinsArgTrpAspArgMetTrpProGlyLeuSerThrGly;Met142_Ser159delinsArgArgSerLeuThrThrLeuTrpThrMetSerIleSerTrpAspThrAla] |
CA2740098019
NM_000237.3:c.386_389del
|