Canonical Allele Identifier: PA147702
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 94242
ClinVar RCV Id: RCV000080205 RCV000408005 RCV000659741 RCV000858851
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Ser2251Leu
CA147701
NM_003482.4:c.6752C>T