ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658810248
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
523665
ClinVar RCV Id:
RCV000627088
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg5214Pro
CA384686107
NM_003482.4:c.15641G>C