Allele Registry

Canonical Allele Identifier: PA206393

Gene: KMT2D HGNC NCBI

ClinVar RCV:

RCV000193123

RCV001444865

RCV001576341

RCV004530128

ClinVar Variation:

211318

HGVS (amino-acid)	Matching Registered Transcripts
NP_003473.3:p.Pro497Leu	CA206392 NM_003482.4:c.1490C>T