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
XP_011537076.1:p.Ser4083Arg
CA234170
XM_011538774.1:c.12249C>G
CA384712407
XM_011538774.1:c.12249C>A
CA384712415
XM_011538774.1:c.12247A>C