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.Thr1988Ser	CA384627326 ENST00000683543.2:c.5963C>G CA384627329 ENST00000683543.2:c.5962A>T