ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825457599
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000209852
ClinVar Variation:
224160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Gly1708Val
CA357158
NM_001079846.1:c.5123G>T