ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825457218
Gene: CREBBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010037
ClinVar Variation:
9430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073315.1:p.Arg1340Pro
CA254813
NM_001079846.1:c.4019G>C