Canonical Allele Identifier: PA222052
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 94196
ClinVar RCV Id: RCV000339875 RCV000723520 RCV000521303 RCV004542764
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Pro647Gln
CA222051
NM_003482.4:c.1940C>A