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
ENSP00000508640.1:p.Ser228Arg	CA6546363 ENST00000685554.1:c.684C>G CA384723498 ENST00000685554.1:c.684C>A CA384723510 ENST00000685554.1:c.682A>C