Canonical Allele Identifier: PA2825198392
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2163001
ClinVar RCV Id: RCV003091561
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu1740Lys
CA405654200
NM_000540.3:c.5218G>A