ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825457297
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376388
ClinVar RCV Id:
RCV000419312
RCV000422245
RCV000423470
RCV000428778
RCV000430036
RCV000431113
RCV000432952
RCV000438307
RCV000439458
RCV000440692
RCV000442935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Arg1408Gly
CA16602827
NM_001079846.1:c.4222C>G