ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA222002
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94155
ClinVar RCV Id:
RCV000080118
RCV000723524
RCV003588574
RCV002498409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Met4058Val
CA222001
NM_003482.4:c.12172A>G