Allele Registry

Canonical Allele Identifier: PA160510

Gene: KMT2D HGNC NCBI

ClinVar RCV:

RCV000121381

RCV000988841

RCV001521913

RCV001594848

RCV004530008

ClinVar Variation:

134672

HGVS (amino-acid)	Matching Registered Transcripts
NP_003473.3:p.Pro1131Leu	CA160509 NM_003482.4:c.3392C>T