Allele Registry

Canonical Allele Identifier: PA658810080

Gene: KMT2D HGNC NCBI

ClinVar RCV:

RCV000592375

RCV001854069

ClinVar Variation:

500787

HGVS (amino-acid)	Matching Registered Transcripts
NP_003473.3:p.His2486Tyr	CA384747665 NM_003482.4:c.7456C>T