Canonical Allele Identifier: PA2580308059
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1878788
ClinVar RCV Id: RCV002511289
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Gln2318Pro
CA7868974
NM_004380.3:c.6953A>C