ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916016939
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
694824
ClinVar RCV Id:
RCV000856918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Lys1520Met
CA394563242
NM_004380.3:c.4559A>T