ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658810048
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
531879
ClinVar RCV Id:
RCV000638427
RCV000763856
RCV004533338
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Ser2173Leu
CA6547247
NM_003482.4:c.6518C>T