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
ENSP00000506726.1:p.Thr5482Ser	CA384676742 ENST00000683543.2:c.16445C>G CA384676761 ENST00000683543.2:c.16444A>T