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: PA915962778

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 665617

ClinVar RCV Id: RCV000823941 RCV004002859 RCV002507445

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Phe2997Leu	CA405683468 NM_001042723.2:c.8989T>C CA405683473 NM_001042723.2:c.8991C>A CA405683474 NM_001042723.2:c.8991C>G