Canonical Allele Identifier: PA231783
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133017
ClinVar RCV Id: RCV000119437 RCV001389265 RCV001580388 RCV004017404
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg3903Gln
CA023926
NM_000540.3:c.11708G>A