ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825458408
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000480206
ClinVar Variation:
423615
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Leu2292Phe
CA16620193
NM_001079846.1:c.6874C>T