Canonical Allele Identifier: PA2580283899
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1986676
ClinVar RCV Id: RCV002770689

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Met1941Ile
CA384628210
NM_003482.4:c.5823G>T
CA384628213
NM_003482.4:c.5823G>C
CA384628216
NM_003482.4:c.5823G>A