Canonical Allele Identifier: PA232088
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133201
ClinVar RCV Id: RCV000119707 RCV001204776 RCV001802872 RCV002483211 RCV002514607
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2452Gln
CA024772
NM_000540.3:c.7355G>A