ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573082887
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1303690
ClinVar RCV Id:
RCV001764806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Ser1401Cys
CA384649306
NM_003482.4:c.4202C>G