Allele Registry

Canonical Allele Identifier: PA3057545973

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000013858

ClinVar Variation:

12986

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Phe4858_Asp4864del	CA024189 NM_001042723.2:c.14572_14592del