Allele Registry

Canonical Allele Identifier: PA915962911

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000034932

RCV001363318

ClinVar Variation:

42105

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Asn3326Lys	CA025011 NM_001042723.2:c.9978C>A CA405693240 NM_001042723.2:c.9978C>G