ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825457326
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208655
ClinVar RCV Id:
RCV000190664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.His1432Arg
CA204617
NM_001079846.1:c.4295A>G