ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580283288
Gene: KMT2D
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg65Cys
CA384689291
NM_003482.4:c.193C>T