Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: KMT2D HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000509386.1:p.Glu5494Asp	CA384675928 ENST00000685166.1:c.16482G>T CA384675930 ENST00000685166.1:c.16482G>C