ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825457008
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010039
ClinVar Variation:
9432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Tyr1137Cys
CA254814
NM_001079846.1:c.3410A>G