ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658809909
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502260
ClinVar RCV Id:
RCV000595880
RCV001860214
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg359Cys
CA6548586
NM_003482.4:c.1075C>T