Canonical Allele Identifier: PA2580129972
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435629
ClinVar RCV Id: RCV003142716
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu4791Arg
CA405686807
NM_000540.3:c.14372T>G