Allele Registry

Canonical Allele Identifier: PA2825423001

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV002297737

RCV005107169

ClinVar Variation:

1717712

3636252

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Phe4858Leu	CA405687830 NM_001042723.2:c.14572T>C CA405687844 NM_001042723.2:c.14574C>A CA405687845 NM_001042723.2:c.14574C>G