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.Thr2017Ser	CA384626848 ENST00000683543.2:c.6050C>G CA384626851 ENST00000683543.2:c.6049A>T