HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001120800.1:p.[Asn190_Met194del;Ile196_Ala202delinsSerGluAspValAsp;Trp204_Ala209delinsGlnArg;Ser211_Pro215del;Ala217_Ala219delinsSer] |
CA2580063235
NM_001127328.3:c.568_569del
|