ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825458408
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423615
ClinVar RCV Id:
RCV000480206
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Leu2292Phe
CA16620193
NM_001079846.1:c.6874C>T