Canonical Allele Identifier: PA2825198321
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1391802
ClinVar RCV Id: RCV001893277 RCV003130583 RCV004010783
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu1719Ile
CA066705
NM_000540.3:c.5155C>A