Allele Registry

Canonical Allele Identifier: PA2825422733

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119496

RCV001219102

RCV001449979

ClinVar Variation:

133056

947946

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Pro4663Ser	CA024099 NM_001042723.2:c.13987C>T CA1139666441 NM_001042723.2:c.13986_13987delinsTT