ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828387541
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1984553
ClinVar RCV Id:
RCV002756847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357069.1:p.Glu1018del
CA5564923
NM_001370140.1:c.3053_3055del