Allele Registry

Canonical Allele Identifier: PA106296

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119497

RCV001449984

RCV003591681

RCV003997314

ClinVar Variation:

133057

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Phe4684Ser	CA024101 NM_000540.3:c.14051T>C