Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2828385866

Gene: KAT6B HGNC NCBI

Linked Data

ClinVar Variation Id: 260242

ClinVar RCV Id: RCV000254483

ClinVar Variation Id: 561618

ClinVar RCV Id: RCV000680949 RCV000767998 RCV002544700 RCV001436261 RCV004535696

ClinVar Variation Id: 1558908

ClinVar RCV Id: RCV002200311

ClinVar Variation Id: 1632816

ClinVar RCV Id: RCV002139802

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357067.1:p.Glu1185del	CA10587091 NM_001370138.1:c.3543_3545del CA2573145644 NM_001370138.1:c.3552_3554del CA2609745708 NM_001370138.1:c.3549_3551del CA2609745709 NM_001370138.1:c.3554_3556del