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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000506726.1:p.Glu40Asp
CA384690353
ENST00000683543.2:c.120G>C
CA384690356
ENST00000683543.2:c.120G>T