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: PA658804841

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544507

ClinVar RCV Id: RCV000655690

ClinVar Variation Id: 544520

ClinVar RCV Id: RCV000721358 RCV001465780

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ala4753Thr	CA061015 NM_000540.3:c.14257G>A CA658799221 NM_000540.3:c.14256_14257delinsCA