Canonical Allele Identifier: PA645489906
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 291162
ClinVar RCV Id: RCV000368766 RCV001323700 RCV002522043 RCV004543150
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Gln3158His
CA6546688
NM_003482.4:c.9474G>C
CA384737729
NM_003482.4:c.9474G>T