ClinGen Allele Registry
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Canonical Allele Identifier:
PA222684
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000081037
RCV001854429
RCV002477232
RCV002514426
RCV003974970
ClinVar Variation:
95032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004371.2:p.Gln771Arg
CA222683
NM_004380.3:c.2312A>G