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
ENSP00000509290.1:p.Tyr49Ter
CA384701697
ENST00000686564.1:c.147C>A
CA384701705
ENST00000686564.1:c.147C>G