Allele Registry

Canonical Allele Identifier: PA915961687

Gene: RYR1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

136849

ClinVar RCV:

RCV000119577

RCV000802081

RCV001588943

RCV003227649

RCV003227650

RCV003227651

RCV003227652

RCV003227653

RCV003227654

RCV003227655

ClinVar Variation:

133102

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg533Cys	CA024293 NM_001042723.2:c.1597C>T