Allele Registry

Canonical Allele Identifier: PA105139

Gene: RYR1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

136929

ClinVar RCV:

RCV000119681

RCV000148806

RCV001383434

RCV001787986

RCV001787987

RCV001787988

RCV001787989

RCV001787990

RCV001787991

RCV001787992

ClinVar Variation:

133182

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Ala2350Thr	CA024690 NM_000540.3:c.7048G>A