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: PA231857

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133056

ClinVar RCV Id: RCV000119496 RCV001449979

ClinVar Variation Id: 947946

ClinVar RCV Id: RCV001219102

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Pro4668Ser	CA024099 NM_000540.3:c.14002C>T CA1139666441 NM_000540.3:c.14001_14002delinsTT