ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139710390
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
981321
ClinVar RCV Id:
RCV001260695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Cys1729Tyr
CA394557786
NM_004380.3:c.5186G>A