Allele Registry

Canonical Allele Identifier: PA106531

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119464

RCV001383437

RCV001450005

RCV001580405

RCV003591680

RCV003993811

ClinVar Variation:

133040

1071064

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Val4234Leu	CA024001 NM_000540.3:c.12700G>C CA405670953 NM_000540.3:c.12700G>T