Canonical Allele Identifier: PA2825198450
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069916
ClinVar RCV Id: RCV004009948
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro1758Arg
CA405654386
NM_000540.3:c.5273C>G