Canonical Allele Identifier: PA645488971
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 283120
ClinVar RCV Id: RCV000316534 RCV003588609 RCV004535292 RCV002519127
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Ser337Leu
CA6548597
NM_003482.4:c.1010C>T