Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2825457968

Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 970435

ClinVar RCV Id: RCV001246005 RCV001252201 RCV002491828 RCV002357049

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073315.1:p.Met2004Ile	CA276971775 NM_001079846.1:c.6012G>T CA394554157 NM_001079846.1:c.6012G>A CA394554159 NM_001079846.1:c.6012G>C