Canonical Allele Identifier: PA2580285331
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1719123
ClinVar RCV Id: RCV002301883
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Asp5489Glu
CA384675969
NM_003482.4:c.16467C>G
CA384675970
NM_003482.4:c.16467C>A