ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658655454
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000514112
RCV002060204
RCV004535658
ClinVar Variation:
445613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg2860Cys
CA6546819
NM_003482.4:c.8578C>T