ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645489034
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374296
ClinVar RCV Id:
RCV000414866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Leu797Val
CA16043680
NM_003482.4:c.2389C>G