Canonical Allele Identifier: PA913196175
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 635269
ClinVar RCV Id: RCV002507354 RCV001592963 RCV003992390
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg163His
CA066494
NM_000540.3:c.488G>A