Allele Registry

Canonical Allele Identifier: PA245524

Gene: KMT2D HGNC NCBI

ClinVar RCV:

RCV000178430

RCV002054116

RCV004528949

ClinVar Variation:

197411

HGVS (amino-acid)	Matching Registered Transcripts
NP_003473.3:p.Asp4530Asn	CA245523 NM_003482.4:c.13588G>A