Allele Registry

Canonical Allele Identifier: PA106243

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056204

RCV000119499

RCV003996486

ClinVar Variation:

65957

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Lys4724Gln	CA024108 NM_000540.3:c.14170A>C