Allele Registry

Canonical Allele Identifier: PA1139679041

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV001217376

RCV002480717

RCV004010715

ClinVar Variation:

946498

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Thr957Met	CA064135 NM_001042723.2:c.2870C>T