ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA234177
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167224
ClinVar RCV Id:
RCV000153414
RCV000763855
RCV002056034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg2370His
CA234176
NM_003482.4:c.7109G>A