ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA271567
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158713
ClinVar RCV Id:
RCV000146149
RCV002055892
RCV002225451
RCV004544339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg3482Trp
CA271566
NM_003482.4:c.10444C>T