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.Val5485Leu	CA384676220 ENST00000685166.1:c.16453G>T CA384676224 ENST00000685166.1:c.16453G>C