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: PA915962649

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 643130

ClinVar RCV Id: RCV000796764

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.His2584Gln	CA405671930 NM_001042723.2:c.7752T>A CA405671938 NM_001042723.2:c.7752T>G