ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825458406
Gene: CREBBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2803627
ClinVar RCV Id:
RCV003760708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Ser2290Leu
CA394550950
NM_001079846.1:c.6869C>T