ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891857371
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
587495
ClinVar RCV Id:
RCV002369985
RCV000714678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Ala2388Thr
CA7868942
NM_004380.3:c.7162G>A