ClinGen Allele Registry
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Canonical Allele Identifier:
PA233870
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000153119
RCV000764070
RCV002316965
RCV003105799
ClinVar Variation:
166965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Pro578Ser
CA233869
NM_004380.3:c.1732C>T