Canonical Allele Identifier: PA2825457630
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 521033
ClinVar RCV Id: RCV000623640
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073315.1:p.Asn1749Lys
CA394557052
NM_001079846.1:c.5247C>G
CA394557053
NM_001079846.1:c.5247C>A