Canonical Allele Identifier: PA915962352
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133150
ClinVar RCV Id: RCV000119639 RCV001580422
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Met1814Lys
CA024520
NM_001042723.2:c.5441T>A