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: PA2825348376

Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3071087

ClinVar RCV Id: RCV004014589

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Ser4141Arg	CA345413198 NM_001035.3:c.12421A>C CA345413208 NM_001035.3:c.12423C>A CA345413210 NM_001035.3:c.12423C>G