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: PA915963040

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133055

ClinVar RCV Id: RCV000119495 RCV001450012

ClinVar Variation Id: 1067471

ClinVar RCV Id: RCV001378751

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Leu4660Pro	CA024095 NM_001042723.2:c.13979_13980delinsCT CA405681584 NM_001042723.2:c.13979T>C