ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825457241
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000485827
ClinVar Variation:
424384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Ala1357Asp
CA16620205
NM_001079846.1:c.4070C>A