HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001272972.1:p.[Asn219_Met223del;Ile225_Ala231delinsSerGluAspValAsp;Trp233_Ala238delinsGlnArg;Ser240_Pro244del;Ala246_Ala248delinsSer] |
CA2580063235
NM_001286043.2:c.655_656del
|