Canonical Allele Identifier: PA2825198355
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3075003
ClinVar RCV Id: RCV004015529
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu1730Pro
CA405654108
NM_000540.3:c.5189T>C