ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580284196
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2433241
ClinVar RCV Id:
RCV003133942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg2734Gln
CA236646334
NM_003482.4:c.8201G>A