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: PA2499243288

Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 297949

ClinVar RCV Id: RCV000534497 RCV001705445 RCV002418151 RCV000373626

ClinVar Variation Id: 468902

ClinVar RCV Id: RCV000545231

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001252522.1:p.Glu792dup	CA561227 NM_001265593.1:c.2373_2375dup CA521018690 NM_001265593.1:c.2372_2373insAGA