HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000330875.3:p.[His239_Leu242delinsGlnLeuAlaSer;Asn244_Ser245del;Val247del;Ala249_Phe251delinsGlySerLeu;Arg253_Ala254delinsCysLeu;Pro256_Pro268delinsSerArgProProSerArgAlaPheAspPheSerAsp] |
CA1957607013
ENST00000327470.6:c.716dup
|