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: PA2825216034

Gene: PRKCSH HGNC NCBI

Linked Data

ClinVar Variation Id: 1352743

ClinVar RCV Id: RCV002039921

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001001329.1:p.Glu323_Glu325dup	CA305355918 NM_001001329.3:c.960_968dup CA2582534210 NM_001001329.3:c.968_969insGGAAGAGGA