Allele Registry

Canonical Allele Identifier: PA105712

Gene: RYR1 HGNC NCBI

ClinVar Allele:

136922

ClinVar RCV:

RCV000119674

RCV000148811

RCV000259113

RCV000325643

RCV000530570

RCV001249381

ClinVar Variation:

133175

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Asn2342Ser	CA024665 NM_000540.3:c.7025A>G